ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe) (rs1064796867)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480388 SCV000574012 likely pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing The C1374F variant in the NOTCH1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C1374F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C1374F variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The C1374F variant is a strong candidate for a pathogenic variant,

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