Submissions for variant NM_000218.3(KCNQ1):c.1394-6C>A

dbSNP: rs759714698

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001840977	SCV001353649	uncertain significance	Cardiac arrhythmia	2022-12-21	criteria provided, single submitter	clinical testing	This variant causes a C to A nucleotide substitution at the -6 position of intron 10 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 3/282762 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001732067	SCV001983426	uncertain significance	not specified	2021-09-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004033365	SCV003612327	uncertain significance	Cardiovascular phenotype	2022-04-19	criteria provided, single submitter	clinical testing	The c.1394-6C>A intronic alteration consists of a C to A substitution 6 nucleotides before exon 11 of the KCNQ1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003770090	SCV004659409	likely benign	Long QT syndrome	2024-03-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003770090	SCV004815269	likely benign	Long QT syndrome	2024-04-16	criteria provided, single submitter	clinical testing