ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58299T>G (p.Thr19433=)

gnomAD frequency: 0.00001  dbSNP: rs778334134
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432390 SCV000536181 likely benign not specified 2017-01-16 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 RCV001087700 SCV001003958 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170366 SCV001332940 likely benign Cardiomyopathy 2017-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323664 SCV002607995 likely benign Cardiovascular phenotype 2022-06-27 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000863317 SCV001739621 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000432390 SCV001924179 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000432390 SCV001951115 benign not specified no assertion criteria provided clinical testing

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