ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80553_80554delinsTT (p.Arg26852Cys) (rs397517716)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836494 SCV000978339 likely benign not provided 2018-06-05 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 RCV000466151 SCV000543010 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040657 SCV000064348 likely benign not specified 2012-04-03 criteria provided, single submitter clinical testing Arg24284Cys in exon 275 of TTN: This variant results from a change affecting 2 b ases (either 72849C>T+72850C>T or 72849_72850delinsTT ? additional testing would clarify whether these are changes on the same of separate chromosomes). Both a re listed in dbSNP without frequency information (72849C>T, Phe24283Phe, rs18979 0119; 72850C>T, Arg24284Cys, rs185887755). This variant is not expected to have clinical significance due to a lack of conservation in mammals. Of note, gorilla and marmoset have a cysteine (Cys; this variant) at this position despite high nearby amino acid conservation. In addition, computational analyses (AlignGVGD, and SIFT) do not suggest a high likelihood of impact to the protein.

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.