Submissions for variant NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)

dbSNP: rs587781009

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000150861	SCV000169952	benign	not specified	2012-03-07	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150861	SCV000198420	likely benign	not specified	2016-10-18	criteria provided, single submitter	clinical testing	p.Ala69Ala variant in exon 1 of KCNQ1: This variant is not expected to have cli nical significance because it does not alter an amino acid residue, it is not lo cated within the splice consensus sequence, and it has been identified in 0.3% ( 10/3698) of European chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000196837	SCV000253121	likely benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293391	SCV000370210	likely benign	Jervell and Lange-Nielsen syndrome 1	2018-11-19	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	RCV001094038	SCV000370212	likely benign	Long QT syndrome 1	2018-11-19	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	RCV000290023	SCV000370213	likely benign	Atrial fibrillation, familial, 3	2018-11-19	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	RCV000345037	SCV000370214	likely benign	Short QT syndrome type 2	2018-11-19	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.
Ambry Genetics	RCV000622218	SCV000735425	likely benign	Cardiovascular phenotype	2016-06-02	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000150861	SCV000740345	benign	not specified	2016-09-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001723693	SCV002062954	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KCNQ1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001723693	SCV005223164	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000150861	SCV001917740	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000150861	SCV001929434	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723693	SCV001958344	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723693	SCV001970880	likely benign	not provided		no assertion criteria provided	clinical testing