Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172599 | SCV000054804 | likely benign | Primary dilated cardiomyopathy | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000037751 | SCV000061413 | benign | not specified | 2012-10-19 | criteria provided, single submitter | clinical testing | Arg690Cys in exon 4 of TMPO: This variant is not expected to have clinical signi ficance because it has been identified in 11.7% (15/128) of Mexican American chr omosomes from a broad population by the 1000 Genomes project (dbSNP rs17028450). This variant has been previously reported in 2 siblings with DCM (Taylor 2005). |
Soonchunhyang University Bucheon Hospital, |
RCV000013544 | SCV000267531 | uncertain significance | Dilated cardiomyopathy 1T | 2016-03-18 | criteria provided, single submitter | reference population | |
Labcorp Genetics |
RCV000231421 | SCV000287931 | benign | Loeys-Dietz syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000037751 | SCV000318751 | benign | not specified | 2015-09-18 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV000037751 | SCV000514912 | benign | not specified | 2017-02-20 | 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. |
ARUP Laboratories, |
RCV001810855 | SCV001159171 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001258228 | SCV001435130 | benign | Hypertrophic cardiomyopathy 25 | criteria provided, single submitter | research | The heterozygous p.Arg690Cys variant in TCAP has been identified in at least 2 siblings with dilated cardiomyopathy (PMID: 16247757). In vitro functional studies provide some evidence that the p.Arg690Cys variant may slightly impact protein function (PMID: 16247757). However, these types of assays may not accurately represent biological function. This variant is classified as benign for autosomal dominant dilated cardiomyopathy because it has been identified in >14% of Latino chromosomes and 141 total homozygotes by ExAC (http://gnomad.broadinstitute.org/). | |
OMIM | RCV000013544 | SCV000033791 | uncertain significance | Dilated cardiomyopathy 1T | 2005-12-01 | no assertion criteria provided | literature only | |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000037751 | SCV000280496 | benign | not specified | 2014-09-16 | 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. p.Arg690Cys (c.2068 C>T) in TMPO (NM_003276.2) This variant has been seen previously with DCM (Taylor et al 2005). However, it was also seen in 13 of 60 indiviudals of Mexican ancestry in 1000 genomes including two homozygous individuals. Our team recently reviewed the evidence that TMPO is implicated in cardiomyopathy and found it to be weak. |
Prevention |
RCV003904834 | SCV004723430 | benign | TMPO-related disorder | 2019-07-10 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |