ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) (rs142794598)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172693 SCV000055056 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154985 SCV000204667 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Ile5633Thr in exon 68 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (37/9774) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs142794598).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000154985 SCV000231970 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000154985 SCV000238284 likely benign not specified 2018-02-05 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 RCV001081624 SCV000555280 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172693 SCV000616019 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287013 SCV001473651 uncertain significance none provided 2019-11-11 criteria provided, single submitter clinical testing The TTN c.20630T>C; p.Ile6877Thr variant (rs142794598; ClinVar Variation ID: 178246) 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 this variant cannot be determined with certainty.

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