ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) (rs397517756)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040797 SCV000064488 uncertain significance not specified 2012-11-07 criteria provided, single submitter clinical testing The Asp28360His variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e and broad European American and African American populations by the NHLBI Exom e Sequencing Project ( Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIF T) do not provide strong support for or against an impact to the protein. In sum mary, additional information is needed to fully assess the clinical significance of this variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726117 SCV000342090 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Invitae RCV000464223 SCV000542635 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000726117 SCV000884784 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing The TTN c.85078G>C; p.Asp28360His variant 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. While the clinical significance of such variants is considered uncertain, evidence suggests that 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 p.Asp28360His variant cannot be determined with certainty.
GeneDx RCV000726117 SCV000981675 likely benign not provided 2018-06-19 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.

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