ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2911A>G (p.Ile971Val)

gnomAD frequency: 0.00002  dbSNP: rs766660415
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342328 SCV001536254 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001526229 SCV001736534 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-28 criteria provided, single submitter clinical testing
GeneDx RCV001836989 SCV002097485 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003).; Reported in ClinVar (ClinVar Variant ID# 1038944)
All of Us Research Program, National Institutes of Health RCV004005178 SCV004814856 likely benign Marfan syndrome 2024-01-11 criteria provided, single submitter clinical testing

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