ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57971G>A (p.Arg19324Gln) (rs186809500)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152278 SCV000725189 likely benign not specified 2017-11-29 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 RCV000152278 SCV000201130 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing The Arg16756Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/200 Southern Han Chinese chromo somes by the 1000 Genomes Project (dbSNP rs186809500). Computational prediction tools and conservation analysis suggest that this variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the Arg16756Gln variant is uncertain.

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