ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys)

gnomAD frequency: 0.00001  dbSNP: rs754634957
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655257 SCV000777187 benign Adams-Oliver syndrome 5 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001584515 SCV001812539 uncertain significance not provided 2021-04-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 33247628)
Genome-Nilou Lab RCV000655257 SCV002553461 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270941 SCV002553462 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352063 SCV002621048 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-03-28 criteria provided, single submitter clinical testing The p.N1318K variant (also known as c.3954T>A), located in coding exon 24 of the NOTCH1 gene, results from a T to A substitution at nucleotide position 3954. The asparagine at codon 1318 is replaced by lysine, 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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