ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70056A>G (p.Arg23352=)

gnomAD frequency: 0.00024  dbSNP: rs75948012
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154923 SCV000204605 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Arg20784Arg in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 0.1% (2/3144) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs75948012). Arg20784Arg in exo n 275 of TTN: (allele frequency = 0.1%, 2/3144; dbSNP rs 75948012) **
Eurofins Ntd Llc (ga) RCV000724396 SCV000228538 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000154923 SCV000515164 likely benign not specified 2016-11-28 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.
Invitae RCV001088774 SCV000765029 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326883 SCV002630974 likely benign Cardiovascular phenotype 2018-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.