ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95567G>A (p.Arg31856His)

gnomAD frequency: 0.00001  dbSNP: rs876658093
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217647 SCV000272804 uncertain significance not specified 2015-08-08 criteria provided, single submitter clinical testing The p.Arg29288His variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine path ogenicity. In summary, the clinical significance of the p.Arg29288His variant is uncertain.

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