ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)

dbSNP: rs1185859533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253279 SCV001428918 likely pathogenic Seizures, benign familial neonatal, 1 2017-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002430054 SCV002729363 pathogenic Inborn genetic diseases 2018-06-13 criteria provided, single submitter clinical testing The p.Y363* pathogenic mutation (also known as c.1089C>G), located in coding exon 8 of the KCNQ2 gene, results from a C to G substitution at nucleotide position 1089. This changes the amino acid from a tyrosine to a stop codon within coding exon 8. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003753169 SCV004445779 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-07-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 976093). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr363*) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742).

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