ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4059G>T (p.Gly1353=)

gnomAD frequency: 0.00001  dbSNP: rs886038250
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245699 SCV000302557 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245699 SCV000527779 likely benign not specified 2016-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001804983 SCV002052254 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765493 SCV004603631 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998949 SCV004814761 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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