ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met)

gnomAD frequency: 0.00002  dbSNP: rs772945824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545808 SCV001765210 uncertain significance not provided 2021-02-03 criteria provided, single submitter clinical testing Observed in an individual with spontaneous coronary artery dissection (Antonutti et al., 2020); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 33190788)
Labcorp Genetics (formerly Invitae), Labcorp RCV003586297 SCV004277549 benign Adams-Oliver syndrome 5 2024-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004651688 SCV005142149 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-10 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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