ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile)

gnomAD frequency: 0.00001  dbSNP: rs979299004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760858 SCV001991492 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002359236 SCV002657042 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-02 criteria provided, single submitter clinical testing The p.V205I variant (also known as c.613G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 613. The valine at codon 205 is replaced by isoleucine, 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.
Invitae RCV002544029 SCV003325703 benign Adams-Oliver syndrome 5 2023-04-14 criteria provided, single submitter clinical testing

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