ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln)

dbSNP: rs12720449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000206878 SCV000260082 benign Long QT syndrome 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381704 SCV002693676 uncertain significance Cardiovascular phenotype 2018-06-15 criteria provided, single submitter clinical testing The p.P448Q variant (also known as c.1343C>A), located in coding exon 10 of the KCNQ1 gene, results from a C to A substitution at nucleotide position 1343. The proline at codon 448 is replaced by glutamine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction 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 RCV003591714 SCV004358417 uncertain significance Cardiac arrhythmia 2022-11-16 criteria provided, single submitter clinical testing This missense variant replaces proline with glutamine at codon 448 of the KCNQ1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). 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 18/250376 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.
All of Us Research Program, National Institutes of Health RCV000206878 SCV004832608 uncertain significance Long QT syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces proline with glutamine at codon 448 of the KCNQ1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). 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 18/250376 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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