Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Biesecker Lab/Clinical Genomics Section, |
RCV000171113 | SCV000055215 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
| Gene |
RCV000171113 | SCV000223678 | uncertain significance | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | Reported in a patient who experienced drug-induced torsades de pointes following ganciclovir and sirolimus use (Ramirez et al., 2013), and in a patient with dilated cardiomyopathy (Burstein et al., 2021); however, both patients also harbored variants in other cardiac phenotype-related genes, and segregation studies were not reported; Reported in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23834499, 24014171, 32746448, 22584458, 23861362) |
| Ambry Genetics | RCV000618648 | SCV000736196 | likely benign | Cardiovascular phenotype | 2019-09-23 | 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. |
| Invitae | RCV001079048 | SCV001003939 | likely benign | Long QT syndrome | 2023-12-15 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000990300 | SCV001141233 | uncertain significance | Long QT syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001143394 | SCV001303917 | benign | Long QT syndrome 12 | 2017-04-28 | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |