ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)

gnomAD frequency: 0.00004  dbSNP: rs140503215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764800 SCV001989264 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing Has been reported in an individual with hereditary thoracic aortic disease (H-TAD) (PMID: 29907982); In silico analysis supports that this missense variant does not alter protein structure/function; Although located in a calcium-binding EGF-like domain of the FBN1 gene, it does not affect a cysteine residue within this domain; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (PMID: 12938084); This variant is associated with the following publications: (PMID: 12938084, 29907982)
Fulgent Genetics, Fulgent Genetics RCV002488525 SCV002786297 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538760 SCV003010790 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-08-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008989 SCV004818607 uncertain significance Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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