ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)

gnomAD frequency: 0.00001  dbSNP: rs990403823
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002943282 SCV003276114 benign Adams-Oliver syndrome 5 2024-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170686 SCV003861510 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-01 criteria provided, single submitter clinical testing The p.I1631V variant (also known as c.4891A>G), located in coding exon 26 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 4891. The isoleucine at codon 1631 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
GeneDx RCV005250266 SCV005900953 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function

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