ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg)

gnomAD frequency: 0.00014  dbSNP: rs572960572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229962 SCV000290297 likely benign Adams-Oliver syndrome 5 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV002225529 SCV002504336 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002365212 SCV002657885 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-20 criteria provided, single submitter clinical testing The p.G2126R variant (also known as c.6376G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6376. The glycine at codon 2126 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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.

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