ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)

dbSNP: rs1554893091
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618009 SCV000737836 pathogenic Cardiovascular phenotype 2016-12-03 criteria provided, single submitter clinical testing The p.Q244* pathogenic mutation (also known as c.730C>T), located in coding exon 5 of the KCNQ1 gene, results from a C to T substitution at nucleotide position 730. This changes the amino acid from a glutamine to a stop codon within coding exon 5. 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.
Color Diagnostics, LLC DBA Color Health RCV001841804 SCV001351814 pathogenic Cardiac arrhythmia 2020-01-23 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 5 of the KCNQ1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not 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 (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001208025 SCV001379396 pathogenic Long QT syndrome 2024-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln244*) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). This variant is not present in population databases (gnomAD no frequency). 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: 519369). For these reasons, this variant has been classified as Pathogenic.

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