ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs)

dbSNP: rs1060500626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460244 SCV000543310 pathogenic Long QT syndrome 2019-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). This variant is not present in population databases (ExAC no frequency).  ClinVar contains an entry for this variant (Variation ID: 405262). This sequence change creates a premature translational stop signal (p.Arg249Alafs*11) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product.
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes RCV003319353 SCV004024204 pathogenic Long QT syndrome 1 2023-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022561 SCV005033425 pathogenic Cardiovascular phenotype 2024-03-08 criteria provided, single submitter clinical testing The c.745_754del10 pathogenic mutation, located in coding exon 5 of the KCNQ1 gene, results from a deletion of 10 nucleotides at nucleotide positions 745 to 754, causing a translational frameshift with a predicted alternate stop codon (p.R249Afs*11). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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