ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu)

gnomAD frequency: 0.00002  dbSNP: rs552065719
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464312 SCV000548967 benign Adams-Oliver syndrome 5 2022-06-04 criteria provided, single submitter clinical testing
GeneDx RCV001799662 SCV002044046 uncertain significance not provided 2022-11-30 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; This variant is associated with the following publications: (PMID: 25793878)
Genome-Nilou Lab RCV000464312 SCV002553371 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270510 SCV002553372 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022718 SCV003562757 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-29 criteria provided, single submitter clinical testing The p.S1690L variant (also known as c.5069C>T), located in coding exon 27 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 5069. The serine at codon 1690 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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