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 2017-05-02 criteria provided, single submitter clinical testing The V82M variant of uncertain significance in the NOTCH1 gene has not been published as pathogenic or been reported as benign to our knowledge. V82M is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V82M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Moreover, this substitution occurs at a position that is not conserved, where M82 is the wild-type residue in at least two species. In silico analysis predicts this variant likely does not alter the protein structure/function.
Invitae 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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