ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1888-3C>T

gnomAD frequency: 0.00004  dbSNP: rs772971971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000386526 SCV000336036 uncertain significance not provided 2015-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540053 SCV000634052 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-12-27 criteria provided, single submitter clinical testing 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. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 283738). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is present in population databases (rs772971971, gnomAD 0.006%). This sequence change falls in intron 16 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.
Fulgent Genetics, Fulgent Genetics RCV000765492 SCV000896788 uncertain significance Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 2018-10-31 criteria provided, single submitter clinical testing

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