ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) (rs148169214)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172723 SCV000055095 likely benign not provided 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000172723 SCV000281091 uncertain significance not provided 2016-04-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039847 SCV000706708 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000039847 SCV000238075 likely benign not specified 2017-06-06 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 RCV000470170 SCV000555124 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039847 SCV000063538 likely benign not specified 2012-12-18 criteria provided, single submitter clinical testing Arg3363His in exon 43 of TTN: This variant is not expected to have it clinical s ignificance because it has been identified in 0.2% (9/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs148169214) and due to a lack of conservati on across species, including mammals. Several other mammals (alpaca, dolphin, an d cow) carry a histidine (His; this variant) at this position supporting that th is change may be tolerated. Arg3363His in exon 43 of TTN (rs148169214; allele f requency = 0.2%, 9/4406)

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.