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 2020-01-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 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
Invitae 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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