ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val)

gnomAD frequency: 0.00003  dbSNP: rs748138179
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697858 SCV000826491 benign Adams-Oliver syndrome 5 2023-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352169 SCV002655211 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-03 criteria provided, single submitter clinical testing The p.M2105V variant (also known as c.6313A>G), located in coding exon 34 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 6313. The methionine at codon 2105 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003328621 SCV004035364 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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