ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1118+2T>C (rs886042605)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000311494 SCV000335382 pathogenic not provided 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV001056524 SCV001220969 likely pathogenic Early infantile epileptic encephalopathy 2019-06-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the KCNQ2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with benign idiopathic neonatal seizures or infantile spasms (PMID: 15596469, 29056246). ClinVar contains an entry for this variant (Variation ID: 283350). 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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