ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1118+2T>C

dbSNP: rs886042605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000311494 SCV000335382 pathogenic not provided 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV001056524 SCV001220969 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 283350). Disruption of this splice site has been observed in individuals with clinical features of KCNQ2-related conditions (PMID: 15596769, 29056246; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 8 of the KCNQ2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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).

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