A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Table 1 Genetic variants identified in the study subject

Gene	OMIM gene	Nucleotide change	Amino acid change	Allelic status	rsID	Classification
ARL2BP	615,407	NM_012106.4:c.294-1G > C	p.(?)	Hom	rs1567526361	LP (PVS1, PM2)
IFT172	607,386	NM_015662.2:c.4933G > A	NP_056477.1:p.(Val1645Ile)	Het	rs149117098	B
EYS	612,424	NM_001142800.1:c.3586T > C	NP_001136272.1:p.(Cys1196Arg)	Het	rs374409854	B
FLVCR1	609,144	NM_014053.3:c.1028T > C	NP_054772.1:p.(Ile343Thr)	Het	rs774455543	VUS

Legend Gene name, OMIM gene number, nucleotide and amino acid change, allelic status, dbSNP Reference SNP cluster ID (rsID) number and ACMG classification are reported. LP = Likely Pathogenic; VUS = Variant of Uncertain Significance; B = Benign; PVS1 = Very Strong Pathogenic criteria; PM2 = Moderate Pathogenic criteria: Hom = Homozygous; Het = Heterozygous; B = Benign

ISSN: 1755-8794