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Table 1 Comparison of clinical characteristics, research variant identified, and CLIA laboratory confirmatory genetic test results

From: Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants

Clinical characteristics

Research genetic testing and validation

Genetic counseling and/or CLIA Lab confirmatory genetic testing uptake

Survey study

Documented in EHR prior to research genetic testing

Research result

Clinically validated

Gender

Dissection age (years)

Family history (1st degree)

Clinical diagnosis (type of dissection and/or genetic condition)

Variant known through clinical testing

Research gene identified

HGVS notation

Research genetic variant validation (MIPs)

Genetic counseling

CLIA lab Variant confirmation (via our study, Invitae)

Enrolled

Male

35–39

Y

Type A

Y

PRKG1

p.Arg177Gln

Y

Y

Y

Y

Female

50–54

Y

Type B

Y

SMAD3

p.Asn218fs

Y

Y

Y

Y

Female

40–44

Y

Type A, MFSb

N

FBN1

p.Arg364*

Y

Y

Y

Y

Male

50–54

Y

Type B, MFSb

N

FBN1

p.Arg2057*

Y

Y

Y

Y

Female

40–44

Y

Type B, MFSb

N

FBN1

c.1148-2A>G

Y

Y

Y

Y

Female

45–49

Y

Type A, MFSb

N

FBN1

p.Glu1811Lys

Y

Y

Y

Y

Female

40–44

N

Type A, MFSb

N

FBN1

p.Cys1511Arg

Y

Y

Y

Y

Male

50–54

Y

Type A

N

FBN1

p.Asp530Gly

Y

Y

Y

Y

Female

40–44

Y

Type A, Possible CTD

N

COL3A1

p.Gly378Aspc

Y

Y

Y

Y

Female

60–64

N

Type B, MFS

N

FBN1

c.443-1G>A

Y

Y

Y

Y

Male

30–34

N

Type A

N

FBN1

p.Asn2624Ser

Y

Y

N

N

Female

30–34

Y

Type A, MFSb

Y

FBN1

p.Asp910Hisc

Y

N

N

N

Female

50–54

Y

Type B

Y

SMAD3

p.Asn218fs

Y

N

N

N

Male

20–24

Y

Type A, MFSb

N

FBN1

p.Arg2335fsc

Y

N

N

N

Male

20–24

N

Type A, MFSb

N

FBN1

p.Cys2496Phe

Y

N

N

N

Male

30–34

Y

Type A, MFSb

N

FBN1

p.Gly1316fs

Y

N

N

N

Male

15–19

Y

Type A, MFSb

N

FBN1

p.Cys1431Argc

Y

N

N

N

Male

50–54

Y

Type A

N

SMAD3

p.Lys116delc

Y

N

N

N

Male

25–29

N

Aortic rupture and unknown CTD

N

FBN1

p.Cys2232Tyr

Y

N

N

N

Male

50–54

Y

Type A

N

LOX

p.Cys244fs

Y

N

N

N

Femaled

45–49

Y

Type B

N

PRKG1

p.Arg177Gln

Y

N

N

N

Femaled

15–19

Y

Type A, MFSb

N

TGFBR2

p.Trp521*

Y

N

N

N

Maled

25–29

Y

Type A, MFSb

N

FBN1

p.Cys2535Trp

Y

N

N

N

Maled

50–54

Y

Type B, MFSb

N

FBN1

p.Cys2258Arg

Y

N

N

N

Femaled

30–34

Y

Type A, MFSb

N

FBN1

p.Thr564fs

Y

N

N

N

Femaled

20–24

N

Type A, MFSb

Y

FBN1

p.Gly1022*

Y

N

N

N

  1. CLIA Clinical Laboratory Improvement Amendments, CTD connective tissue disease, MFS Marfan Syndrome, MIPs Molecular Inversion Probe Sequencing, N No, Type A Type A aortic dissection, Type B Type B aortic dissection, Y Yes
  2. aHGVS mutation (*) means deletion
  3. bParticipants had a syndromic diagnosis of Marfan Syndrome based on Ghent nosology criteria [28] and the research genetic result aligned with the clinical diagnosis
  4. cGenetic variant not present in gnomAD version 2.1, dbSNP version 151, or ClinVar as of September 30, 2018
  5. dDeceased (n = 5) or lost to follow-up (n = 1)
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BMC Medical Genomics

ISSN: 1755-8794

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