ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.244G>A (p.Val82Met)

gnomAD frequency: 0.00001  dbSNP: rs571831870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494580 SCV000582027 uncertain significance not provided 2024-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000701769 SCV000830585 benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000701769 SCV002554021 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270589 SCV002554022 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431437 SCV002731555 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-07-18 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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