ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val)

gnomAD frequency: 0.00001  dbSNP: rs202144877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529019 SCV000659404 likely benign Adams-Oliver syndrome 5 2022-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431726 SCV002741911 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-14 criteria provided, single submitter clinical testing The p.A834V variant (also known as c.2501C>T), located in coding exon 16 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 2501. The alanine at codon 834 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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