ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.543G>A (p.Ala181=)

dbSNP: rs1447421194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695952 SCV000824493 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-04-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 574115). This variant has been observed in individuals with KCNQ2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 181 of the KCNQ2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNQ2 protein.
GeneDx RCV002466566 SCV002762645 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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