ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile)

gnomAD frequency: 0.00006  dbSNP: rs776698364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230592 SCV001403076 benign Adams-Oliver syndrome 5 2023-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436893 SCV002745649 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-03 criteria provided, single submitter clinical testing The p.V874I variant (also known as c.2620G>A), located in coding exon 17 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 2620. The valine at codon 874 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004545137 SCV004758930 uncertain significance NOTCH1-related disorder 2024-01-15 criteria provided, single submitter clinical testing The NOTCH1 c.2620G>A variant is predicted to result in the amino acid substitution p.Val874Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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