ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2840G>C (p.Ser947Thr) (rs1555728008)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519952 SCV000618890 uncertain significance not provided 2017-07-10 criteria provided, single submitter clinical testing The S947T variant in the NOTCH3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S947T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S947T variant is a conservative amino acid substitution, which occurs at a position in the EGF-like 24 domain where amino acids with similar properties to Serine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S947T as a variant of uncertain significance.

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