ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1334+3A>G

dbSNP: rs2153792200
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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 RCV001986986 SCV002277720 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2021-04-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNMA1-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 10 of the KCNMA1 gene. It does not directly change the encoded amino acid sequence of the KCNMA1 protein. It affects a nucleotide within the consensus splice site of the intron.

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