ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val)

gnomAD frequency: 0.00005  dbSNP: rs752951296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687982 SCV000815577 benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026282 SCV005027238 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-29 criteria provided, single submitter clinical testing The p.A1349V variant (also known as c.4046C>T), located in coding exon 25 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4046. The alanine at codon 1349 is replaced by valine, an amino acid with similar 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 alteration remains unclear.

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