ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)

gnomAD frequency: 0.00006  dbSNP: rs780710009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988298 SCV001137966 likely pathogenic Adams-Oliver syndrome 5 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000988298 SCV001567480 benign Adams-Oliver syndrome 5 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409318 SCV002722800 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-19 criteria provided, single submitter clinical testing The p.P649T variant (also known as c.1945C>A), located in coding exon 12 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 1945. The proline at codon 649 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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