ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5283C>T (p.Thr1761=)

gnomAD frequency: 0.00001  dbSNP: rs373887214
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001531824 SCV000512999 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951891 SCV001098342 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-01-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187600 SCV001354449 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531824 SCV001747118 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502472 SCV002808349 likely benign 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 2022-05-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995958 SCV004814668 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001187600 SCV005032592 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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