ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1356del (p.Leu453fs)

dbSNP: rs1848632145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001843139 SCV001348338 pathogenic Cardiac arrhythmia 2018-12-04 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 10 of the KCNQ1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of KCNQ1 function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.
Ambry Genetics RCV002379703 SCV002693147 pathogenic Cardiovascular phenotype 2018-11-09 criteria provided, single submitter clinical testing The c.1356delG pathogenic mutation, located in coding exon 10 of the KCNQ1 gene, results from a deletion of one nucleotide at nucleotide position 1356, causing a translational frameshift with a predicted alternate stop codon (p.L453Wfs*13). 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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