ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)

gnomAD frequency: 0.00014  dbSNP: rs200669271
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150866 SCV000198425 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing Gly189Gly in Exon 03 of KCNQ1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/1309 European chrom osomes by the ClinSeq Project (dbSNP rs200669271).
Labcorp Genetics (formerly Invitae), Labcorp RCV000464601 SCV000555797 likely benign Long QT syndrome 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001102709 SCV001259394 likely benign Long QT syndrome 1 2017-04-27 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 RCV001102710 SCV001259395 likely benign Jervell and Lange-Nielsen syndrome 1 2017-04-27 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 RCV001102711 SCV001259396 likely benign Atrial fibrillation, familial, 3 2017-04-27 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 RCV001104619 SCV001261497 benign Short QT syndrome type 2 2017-04-27 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Color Diagnostics, LLC DBA Color Health RCV001842461 SCV001353820 likely benign Cardiac arrhythmia 2018-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001651012 SCV001865265 likely benign not provided 2018-10-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001651012 SCV002062955 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing KCNQ1: BP4, BP7
Ambry Genetics RCV002345463 SCV002647828 likely benign Cardiovascular phenotype 2020-02-03 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.

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