ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu)

gnomAD frequency: 0.00009  dbSNP: rs367710569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472629 SCV000548948 benign Adams-Oliver syndrome 5 2023-12-10 criteria provided, single submitter clinical testing
GeneDx RCV001591091 SCV001816217 uncertain significance not provided 2022-08-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV000472629 SCV002553434 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270503 SCV002553435 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329051 SCV002626843 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-02 criteria provided, single submitter clinical testing The p.P1386L variant (also known as c.4157C>T), located in coding exon 25 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4157. The proline at codon 1386 is replaced by leucine, 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.

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