Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000148527 | SCV000055217 | likely benign | Long QT syndrome | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000057870 | SCV000234080 | likely benign | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Labcorp Genetics |
RCV000148527 | SCV000283956 | benign | Long QT syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000181777 | SCV000539428 | likely benign | not specified | 2017-02-03 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is present in HGMD associated to LQTS in 9 papers, with comments suggesting Benign-VUS. It is classified in ClinVar with 1 star as Benign by Stanford and Invitae, Likely benign by Biesecker lab, and VUS by GeneDx and CSER. It has a Max MAF in ExAC of 0.24% (38 South Asian alleles) and in gnomAD of 0.25% (78 South Asian, 21 Ashkenazi, and 160 european alleles). |
Ambry Genetics | RCV000619112 | SCV000737808 | likely benign | Cardiovascular phenotype | 2018-06-07 | 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. |
Center For Human Genetics And Laboratory Diagnostics, |
RCV000678963 | SCV000805179 | uncertain significance | Long QT syndrome 2 | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001841694 | SCV000903203 | likely benign | Cardiac arrhythmia | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000678963 | SCV001137547 | benign | Long QT syndrome 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000678963 | SCV001324604 | uncertain significance | Long QT syndrome 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Institute of Human Genetics, |
RCV000678963 | SCV001428618 | uncertain significance | Long QT syndrome 2 | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000181777 | SCV002819810 | likely benign | not specified | 2022-12-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000057870 | SCV004010740 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | KCNH2: BP4, BS1 |
Cardiovascular Biomedical Research Unit, |
RCV000057870 | SCV000089390 | not provided | not provided | no assertion provided | literature only | This variant has been reported in the following publications (PMID:10973849;PMID:12402336;PMID:14661677;PMID:14760488;PMID:16432067;PMID:19841300;PMID:21410720;PMID:22378279). | |
CSER _CC_NCGL, |
RCV000148527 | SCV000190239 | uncertain significance | Long QT syndrome | 2014-06-01 | no assertion criteria provided | research | |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000181777 | SCV000280115 | benign | not specified | 2011-07-18 | no assertion criteria provided | clinical testing | Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. KCNH2 p.Pro347Ser Given an MAF of 0.2% in unselected individuals and the location in the protein, we consider this variant likely benign. The proline at codon 347 is not conserved across species. The variant is in the N terminus of the channel. Variants in this region are less likely to be pathogenic than variants in the channel or C terminus (Kapa et al 2009). The variant was reported online in 156 of 55,452 individuals in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of September 16, 2015). Specifically, the variant was observed in 38 of 7642 South Asian individuals (MAF 0.2%)and 111 of 30,876 European indivdiuals. The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease. |
Genome Diagnostics Laboratory, |
RCV000057870 | SCV002034249 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000057870 | SCV002034415 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000057870 | SCV002037511 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004549481 | SCV004758146 | likely benign | KCNH2-related disorder | 2022-08-17 | 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). |