ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile)

gnomAD frequency: 0.00001  dbSNP: rs766198119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236400 SCV001409123 benign Adams-Oliver syndrome 5 2023-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451568 SCV002614249 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-02-24 criteria provided, single submitter clinical testing The p.V1229I variant (also known as c.3685G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3685. The valine at codon 1229 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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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