ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) (rs191968963)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732240 SCV000860164 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000732240 SCV000981041 likely benign not provided 2018-05-22 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155842 SCV000205553 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The Met4269Thr variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/196 Iberian chromosomes by the 1 000 Genomes Project (dbSNP 191968963). Computational prediction tools suggest th at this variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. Additional information is needed to full y assess the clinical significance of the Met4269Thr variant.

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