ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.388-1G>A

dbSNP: rs6089914
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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 RCV001379620 SCV001577453 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNQ2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the KCNQ2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). 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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