ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4762A>C (p.Ser1588Arg)

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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 RCV004824027 SCV005456675 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-10-22 criteria provided, single submitter clinical testing The p.S1588R variant (also known as c.4762A>C), located in coding exon 26 of the NOTCH1 gene, results from an A to C substitution at nucleotide position 4762. The serine at codon 1588 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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