ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)

gnomAD frequency: 0.00001  dbSNP: rs373770404
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700880 SCV000829656 benign Adams-Oliver syndrome 5 2025-01-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769608 SCV000901005 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000700880 SCV002553961 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270970 SCV002553962 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769608 SCV005456597 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-27 criteria provided, single submitter clinical testing The p.V413M variant (also known as c.1237G>A), located in coding exon 7 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1237. The valine at codon 413 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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