ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4913G>T (p.Trp1638Leu)

gnomAD frequency: 0.00002  dbSNP: rs981320922
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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 RCV002340703 SCV002645426 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-06 criteria provided, single submitter clinical testing The p.W1638L variant (also known as c.4913G>T), located in coding exon 26 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 4913. The tryptophan at codon 1638 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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