Submissions for variant NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)

dbSNP: rs112113213

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231907	SCV000283878	likely benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253803	SCV000319999	likely benign	Cardiovascular phenotype	2015-07-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga)	RCV000341550	SCV000333396	uncertain significance	not provided	2015-07-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396200	SCV000370381	likely benign	Short QT syndrome type 2	2018-06-07	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000313609	SCV000370382	likely benign	Jervell and Lange-Nielsen syndrome 1	2018-06-07	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001093997	SCV000370383	likely benign	Long QT syndrome 1	2018-06-07	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000309382	SCV000370385	likely benign	Atrial fibrillation, familial, 3	2018-06-07	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Color Diagnostics, LLC DBA Color Health	RCV001842987	SCV001347322	benign	Cardiac arrhythmia	2018-10-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000341550	SCV001844041	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002282069	SCV002571795	benign	not specified	2022-08-06	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000231907	SCV004836493	benign	Long QT syndrome	2024-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532836	SCV004731215	likely benign	KCNQ1-related disorder	2023-12-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).