ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) (rs201744218)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000591089 SCV000238207 likely benign not specified 2018-03-01 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 RCV001087944 SCV000555336 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726948 SCV000704395 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726948 SCV001146322 likely benign not provided 2018-12-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285160 SCV001471552 uncertain significance none provided 2019-08-02 criteria provided, single submitter clinical testing The TTN c.14788C>A, p.(Pro4930Thr) variant (rs201744218; ClinVar Variation ID: 203241) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.(Pro4930Thr) variant cannot be determined with certainty.
Mayo Clinic Laboratories, Mayo Clinic RCV000726948 SCV001714666 uncertain significance not provided 2020-02-04 criteria provided, single submitter clinical testing

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