ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44589G>A (p.Thr14863=)

gnomAD frequency: 0.00009  dbSNP: rs369800903
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154948 SCV000204630 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Thr12295Thr in exon 191 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/3666 African Ame rican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS). Thr12295Thr in exon 191 of TTN (allele frequency = 2/3666 ) **
Eurofins Ntd Llc (ga) RCV000725872 SCV000340126 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000154948 SCV000516623 benign not specified 2015-12-30 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 RCV001087758 SCV001010159 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408690 SCV002715753 likely benign Cardiovascular phenotype 2018-06-30 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149946 SCV003838621 likely benign Cardiomyopathy 2021-06-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000154948 SCV001920370 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000725872 SCV001953495 likely benign not provided no assertion criteria provided clinical testing

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