ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser)

gnomAD frequency: 0.00003  dbSNP: rs928512979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315108 SCV000739467 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-26 criteria provided, single submitter clinical testing The p.N421S variant (also known as c.1262A>G), located in coding exon 8 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 1262. The asparagine at codon 421 is replaced by serine, an amino acid with highly similar properties. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001860402 SCV002150053 benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001860402 SCV002553955 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270902 SCV002553956 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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