Skip to main content

Table 1 (a/b) Whole exome sequencing (WES) was performed in 16 individuals with SUD. The age of the individuals at the SUD event and the eleven potentially causative variants after stringent filtering process, name of the gene, OMIM, Reference Sequence (NM_number) of the gene, variant, amino acid (AA) change, variant type (splice_donor, splice_acceptor, missense), human phenotype ontology (HPO) match, population frequency (GnomAD), Single Nucleotide Polymorphism database number (dbSNP), MetaLR logistic regression (LR)-based score (MetaLrRank), ACMG criteria and classification are listed. Evidence of pathogenicity of each variant was shown. Pathogenic criteria: PVS1 (very strong), PM2 (moderate), PS3 (strong), PP3, PP4 (supporting). Evidence of benign impact: BS1 (strong). The variants were deposited and made publicly available at LOVD v.3.0 (Leiden Open Variation Database), LOVD variant link is listed

From: HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

Age of SUD Gene *OMIM NM_number Variant AA change Variant type HPO match GnomAD dbSNP MetaLrRank ACMG criteria ACMG class LOVD Variant link
(a) List of identified variants after the described filter setting and HPO annotation
8 months DSG2 125671 NM_001943.4 c.81+1G>C p.(?) Splice donor Sudden cardiac death – – – PVS1-m, PM2 3 Individual #00329013 - Global Variome shared LOVD
3 months UPB1 606673 NM_016327.2 c.917-1G>A p.(?) Splice acceptor Status epilepticus 0.0017889 143493067 – PVS1, PM2 4 Individual #00329092 - Global Variome shared LOVD
4 weeks SCN4A 603967 NM_000334.4 c.787G>A p.(Val263Ile) Missense Arrhythmia, Apnea 0.0000121 – 0.97394 PM1, PM2, PP3 3 Individual #00329093 - Global Variome shared LOVD
3 months RYR2 180902 NM_001035.2 c.1939C>T p.(Arg647Cys) Missense Sudden cardiac death 0.0001465 202040519 0.96504 PM2, PP3 3 Individual #00329094 - Global Variome shared LOVD
  SCN8A 600702 NM_014191.3 c.5392G>A p.(Asp1798Asn) Missense Status epilepticus – – 0.92015 PM2, PP2 3 Individual #00329094 - Global Variome shared LOVD
9 months AKAP9 604001 NM_005751.4 c.7096A>G p.(Ile2366Val) Missense Sudden cardiac death 0.0000248 368823780 0.08032 PM2, BP4 3 Individual #00329095 - Global Variome shared LOVD
5 weeks SCN5A 600163 NM_198056.2 c.3520C>T p.(Arg1174Trp) Missense Arrhythmia, sudden cardiac death 0.0000348 367906630 0.9016 PM2, PP2, PP3 3 Individual #00329096 - Global Variome shared LOVD
28 years DTNA 601239 NM_001390.4 c.1571G>A p.(Arg524His) Missense Sudden cardiac death 0.0000906 142108185 0.50319 PP3, BS2 3 Individual #00329097 - Global Variome shared LOVD
32 years RAF1 164760 NM_002880.3 c.1334T>G p.(Leu445Arg) Missense Arrhythmia 0.0000239 – 0.95649 PM1, PP2, PP3, BS2 3 Individual #00329098 - Global Variome shared LOVD
23 years SCN5A 600163 NM_198056.2 c.3152T>C p.(Val1051Ala) Missense Arrhythmia, sudden cardiac death 0.000004 – 0.83793 PM2 3 Individual #00329099 - Global Variome shared LOVD
  RBM20 613171 NM_001134363.2 c.215A>T p.(Asn72Ile) Missense Sudden cardiac death – – 0.80363 PM2 3 Individual #00329099 - Global Variome shared LOVD
(b) List of additionally identified variants by the sudden death-gene panel
12 weeks CTNNA3 607667 NM_013266.3 c.935C>T p.(Ala312Val) Missense No 0.00002830 – 0.62663 PM2 3 Individual #00329100 - Global Variome shared LOVD
4 weeks KCNA5 176267 NM_002234.3 c.98A>T p.(Glu33Val) Missense No 0.0002093 71584818 0.93829 PM2, PP3 3 Individual #00329093 - Global Variome shared LOVD
Back to article page

BMC Medical Genomics

ISSN: 1755-8794

Contact us