ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.12946G>A (p.Glu4316Lys)

dbSNP: rs727503667
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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 RCV000152451 SCV000201545 uncertain significance not specified 2014-11-10 criteria provided, single submitter clinical testing The p.Glu4316Lys 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 are limited or unavailable for this v ariant. In summary, the clinical significance of the p.Glu4316Lys variant is unc ertain.

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