ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6944A>T (p.Gln2315Leu)

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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 RCV004643969 SCV005142225 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-06-11 criteria provided, single submitter clinical testing The p.Q2315L variant (also known as c.6944A>T), located in coding exon 34 of the NOTCH1 gene, results from an A to T substitution at nucleotide position 6944. The glutamine at codon 2315 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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