ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) (rs200968679)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725049 SCV000884813 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing The TTN c.46456G>C; p.Val15486Leu variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and have 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. While the clinical significance of such variants is considered uncertain, evidence suggests that the vast majority of missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the clinical significance of the c.46456G>C; p.Val15486Leu variant cannot be determined with certainty.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725049 SCV000333542 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000152311 SCV000237296 likely benign not specified 2017-12-11 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 RCV000643272 SCV000764959 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152311 SCV000201189 uncertain significance not specified 2014-07-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660527 SCV000782629 uncertain significance Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Hereditary myopathy with early respiratory failure 2017-03-06 criteria provided, single submitter clinical testing

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