ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39578A>G (p.Glu13193Gly) (rs190461403)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152360 SCV000237132 likely benign not specified 2017-06-22 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 RCV000228409 SCV000286636 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152360 SCV000201280 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing The Glu10759Gly variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/128 Mexican chromosomes by the 1000 Genomes Project (dbSNP rs190461403). Computational prediction tools and con servation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Glu10759Gly variant is un certain.

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