ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.536T>A (p.Val179Asp)

dbSNP: rs2133377731
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347058 SCV002646451 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-23 criteria provided, single submitter clinical testing The p.V179D variant (also known as c.536T>A), located in coding exon 4 of the NOTCH1 gene, results from a T to A substitution at nucleotide position 536. The valine at codon 179 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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