ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser)

dbSNP: rs2101398595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001376941 SCV001574141 likely pathogenic Developmental and epileptic encephalopathy, 32 2020-07-23 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of KCNA2-related disorders (Invitae). In at least one individual the variant was observed to be de novo. This sequence change replaces arginine with serine at codon 300 of the KCNA2 protein (p.Arg300Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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