ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1118+3A>G

dbSNP: rs1057516112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002058836 SCV002496693 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing KCNQ2: PM2, PS4:Supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV003588620 SCV004312689 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-09-17 criteria provided, single submitter clinical testing Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 369785). This variant has been observed in individual(s) with benign familial neonatal-infantile seizures (PMID: 23360469). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the KCNQ2 gene. It does not directly change the encoded amino acid sequence of the KCNQ2 protein. It affects a nucleotide within the consensus splice site. 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.
GeneReviews RCV000678166 SCV000484611 not provided Seizures, benign familial neonatal, 1 no assertion provided literature only BFNE (benign familial neonatal epilepsy)

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