ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser)

gnomAD frequency: 0.00013  dbSNP: rs1397523469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315134 SCV000739503 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-12-10 criteria provided, single submitter clinical testing The p.P7S variant (also known as c.19C>T), located in coding exon 1 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 19. The proline at codon 7 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000802034 SCV000941842 benign Adams-Oliver syndrome 5 2023-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000802034 SCV002554029 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270917 SCV002554031 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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