ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12851A>C (p.Gln4284Pro)

dbSNP: rs876658107
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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 RCV000216233 SCV000272861 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing The p.Gln4046Pro variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of the p.Gln4046Pro variant is uncertain.

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