ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1972G>T (p.Gly658Trp) (rs767183298)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658280 SCV000780051 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN2A gene. The G658W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G658W variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The G658W variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution is predicted to be within the intracellular loop between the S6 transmembrane segment of the first homologous domain and the S1 transmembrane segment of the second homologous domain. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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