ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.817-10G>A

dbSNP: rs375363057
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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 RCV000702811 SCV000831681 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-22 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of KCNQ2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 579506). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the KCNQ2 gene. It does not directly change the encoded amino acid sequence of the KCNQ2 protein. For these reasons, this variant has been classified as Pathogenic.

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