Total submissions: 22
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172543 | SCV000051388 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000038062 | SCV000061728 | likely benign | not specified | 2020-04-20 | criteria provided, single submitter | clinical testing | The p.Glu1740Lys variant in DSP is classified as likely benign because it has been identified in 0.2% (73/35312) of Latino and 0.18% (229/129084) of European chromosomes, including 1 homozygous individual by gnomAD (http://gnomad.broadinstitute.org). It has also been reported in >10 individuals with a range of cardiomyopathy phenotypes (ARVC, DCM, HCM, RCM, Brugada syndrome, ventricular tachycardia), and it has segregated with Brugada syndrome in 1 affected relative from 1 family (Cox 2011, Allegue 2015, Bottillo 2016, LMM data). However, these diseases have different underlying molecular mechanisms, and furthermore, several of these probands were compound or double heterozygous with a presumed pathogenic variant. In summary, this variant is likely benign due to its elevated frequency in the general population, presence of phenotypes with different underlying molecular mechanisms in reported cases, as well as cases that had other more likely causative variants identified. ACMG/AMP Criteria applied: BS1, BP5, BP4. |
Gene |
RCV000172543 | SCV000233547 | likely benign | not provided | 2021-03-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21606396, 31395126, 26230511, 23861362, 26656175, 27153395, 27435932, 24503780, 30821013) |
Invitae | RCV001082740 | SCV000288543 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000376629 | SCV000465106 | likely benign | Lethal acantholytic epidermolysis bullosa | 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, |
RCV001095215 | SCV000465107 | likely benign | Arrhythmogenic right ventricular dysplasia 8 | 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, |
RCV000406700 | SCV000465109 | likely benign | Woolly hair-skin fragility syndrome | 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. |
Centre for Mendelian Genomics, |
RCV000415071 | SCV000492553 | uncertain significance | Primary dilated cardiomyopathy; Migraine; Hemiplegia | 2014-11-24 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172543 | SCV000702977 | uncertain significance | not provided | 2016-11-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621777 | SCV000735617 | likely benign | Cardiovascular phenotype | 2018-08-01 | 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. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000038062 | SCV000747953 | uncertain significance | not specified | 2017-01-26 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769232 | SCV000900608 | benign | Cardiomyopathy | 2021-04-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769232 | SCV000902785 | likely benign | Cardiomyopathy | 2018-03-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172543 | SCV003829146 | likely benign | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing | |
Dept of Medical Biology, |
RCV003318345 | SCV004021997 | uncertain significance | Long QT syndrome | 2024-01-08 | criteria provided, single submitter | research | Criteria: BS1 |
Prevention |
RCV003974881 | SCV004792821 | likely benign | DSP-related disorder | 2023-06-14 | criteria provided, single submitter | 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). |
CSER _CC_NCGL, |
RCV000291666 | SCV000503539 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2016-08-01 | no assertion criteria provided | research | Found in patient having exome sequencing for an unrelated indication. No known history of arrhythmogenic right ventricular dysplasia. |
Diagnostic Laboratory, |
RCV000172543 | SCV001741466 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000038062 | SCV001922144 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000172543 | SCV001930173 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000172543 | SCV001956188 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000172543 | SCV001964914 | likely benign | not provided | no assertion criteria provided | clinical testing |