ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4683C>G (p.Asn1561Lys) (rs1379550929)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658172 SCV000779943 uncertain significance not provided 2018-05-15 criteria provided, single submitter clinical testing The N1561K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N1561K variant is not observed in large population cohorts (Lek et al., 2016). The N1561K variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. This substitution is predicted to be within the extracellular loop between the S1and S2 transmembrane segments of the fourth homologous domain. 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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