ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg)

dbSNP: rs765394232
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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 RCV000457979 SCV000543201 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-05-07 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KCNQ2-related disease. This sequence change replaces proline with arginine at codon 370 of the KCNQ2 protein (p.Pro370Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.

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