ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1128+4C>T

gnomAD frequency: 0.00005  dbSNP: rs201590918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126434 SCV000169941 benign not specified 2012-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000541478 SCV000627373 uncertain significance Long QT syndrome 2024-01-21 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the KCNQ1 gene. It does not directly change the encoded amino acid sequence of the KCNQ1 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 138002). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003162568 SCV003900446 uncertain significance Cardiovascular phenotype 2023-03-07 criteria provided, single submitter clinical testing The c.1128+4C>T intronic variant results from a C to T substitution 4 nucleotides after coding exon 8 in the KCNQ1 gene. This nucleotide position is conserved on limited sequence alignment. 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 RCV003591687 SCV004358409 uncertain significance Cardiac arrhythmia 2023-04-11 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the +4 position of intron 8 of the KCNQ1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with KCNQ1-related disorders in the literature. This variant has been identified in 2/250810 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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