ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1033-5C>G

gnomAD frequency: 0.00004  dbSNP: rs764094211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631828 SCV000752924 likely benign Long QT syndrome 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388012 SCV002697711 uncertain significance Cardiovascular phenotype 2022-01-04 criteria provided, single submitter clinical testing The c.1033-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 8 in the KCNQ1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV003591763 SCV004358404 uncertain significance Cardiac arrhythmia 2022-04-19 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -5 position of intron 7 of the KCNQ1 gene. Splice prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 4/282750 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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