ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met)

gnomAD frequency: 0.00001  dbSNP: rs370746889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001929533 SCV002206011 benign Adams-Oliver syndrome 5 2023-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352600 SCV002657656 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-12-07 criteria provided, single submitter clinical testing The p.T405M variant (also known as c.1214C>T), located in coding exon 7 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 1214. The threonine at codon 405 is replaced by methionine, 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.
GeneDx RCV002463073 SCV002757041 uncertain significance not provided 2022-11-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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