ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5705G>A (p.Arg1902His) (rs747710683)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498889 SCV000589465 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing The R1902H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. A different missense variant at the same position (R1902C) has been reported previously in an individual with autism; however, it was not detected in this individual's affected sibling (Weiss et al., 2003). The R1902H variant is observed in 5/24026 (0.02%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). This substitution occurs at a conserved position predicted to be within the C-terminal cytoplasmic region of the SCN2A protein. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the R1902H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is apathogenic variant or a rare benign variant.

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