ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) (rs201035457)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725460 SCV000884802 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing The TTN: c.31999G>A; p.Glu10667Lys 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 p.Arg13618Leu and p.Ala7671Gly variants cannot be determined with certainty.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725460 SCV000337111 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000040194 SCV000237130 likely benign not specified 2018-02-28 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 RCV000228887 SCV000286633 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040194 SCV000063885 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing The p.Glu10667Lys variant in TTN has been identified by our laboratory in 1 chil d with DCM, who also carries a disease-causing MYH7 variant. The p.Glu10667Lys v ariant has also been identified in 24/55108 European chromosomes by the Exome Ag gregation Consortium (ExAC,; dbSNP rs201035457). Computational prediction tools and conservation analysis suggest that this varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Glu10 667Lys variant is uncertain.

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