ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12234C>G (p.Thr4078=)

gnomAD frequency: 0.00022  dbSNP: rs192857526
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Total submissions: 11
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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 RCV000041091 SCV000064782 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing p.Thr3840Thr in exon 45B of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (17/16508) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs192857526).
GeneDx RCV000041091 SCV000236727 benign not specified 2014-08-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085596 SCV000642656 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585032 SCV000693029 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Eurofins Ntd Llc (ga) RCV000041091 SCV000855258 likely benign not specified 2018-07-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798217 SCV002042359 likely benign Cardiomyopathy 2020-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433522 SCV002751633 benign Cardiovascular phenotype 2020-11-23 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000585032 SCV001744115 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000585032 SCV001951178 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000585032 SCV001964706 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041091 SCV001978995 benign not specified no assertion criteria provided clinical testing

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