ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr)

gnomAD frequency: 0.00001  dbSNP: rs769784635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462159 SCV000548961 benign Adams-Oliver syndrome 5 2023-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418394 SCV002678646 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-06-27 criteria provided, single submitter clinical testing The p.P27T variant (also known as c.79C>A), located in coding exon 2 of the NOTCH1 gene, results from a C to A substitution at nucleotide position 79. The proline at codon 27 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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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