ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1313G>A (p.Gly438Asp)

dbSNP: rs781957465
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518945 SCV000622047 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing The G438D variant in the NOTCH2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G438D variant is not observed in large population cohorts (Lek et al., 2016). The G438D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G438D as a likely pathogenic variant.

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