ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=)

gnomAD frequency: 0.00002  dbSNP: rs974604498
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190990 SCV001358659 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000868568 SCV002000843 uncertain significance not provided 2020-02-27 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 (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Reported in ClinVar (ClinVar Variant ID#700401; Landrum et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV002064587 SCV002340214 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-10-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298795 SCV002598556 likely benign not specified 2022-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190990 SCV002655009 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-06 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.
All of Us Research Program, National Institutes of Health RCV004003023 SCV004822456 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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