ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5843A>T (p.Asp1948Val) (rs770684740)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486993 SCV000574128 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing The D1948V variant in the SCN2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D1948V variant is observed in 1/10374 (0.01%) alleles [from individuals of African background in the ExAC dataset (Lek et al., 2016). The D1948V 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 within the C-terminal cytoplasmic domain that is not conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D1948V as a variant of uncertain significance.

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