ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.106del (p.Arg36fs)

dbSNP: rs1600886270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821702 SCV000962471 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-08-20 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: 663758). 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.Arg36Glyfs*6) 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).
Ambry Genetics RCV004629352 SCV005126920 pathogenic Inborn genetic diseases 2024-03-22 criteria provided, single submitter clinical testing The c.106delC (p.R36Gfs*6) alteration, located in exon 1 (coding exon 1) of the KCNQ2 gene, consists of a deletion of one nucleotide at position 106, causing a translational frameshift with a predicted alternate stop codon after 6 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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