ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu)

gnomAD frequency: 0.00004  dbSNP: rs770713134
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236732 SCV001409468 benign Adams-Oliver syndrome 5 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001587265 SCV001824561 uncertain significance not provided 2023-08-31 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 does not alter protein structure/function
Genome-Nilou Lab RCV001236732 SCV002553307 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271198 SCV002553308 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002357013 SCV002655416 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-08-05 criteria provided, single submitter clinical testing The p.P2128L variant (also known as c.6383C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6383. The proline at codon 2128 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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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