ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79207A>G (p.Met26403Val)

dbSNP: rs876658083
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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 RCV000218871 SCV000272767 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing The p.Met23835Val variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Met23835Val variant is uncertain.

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