ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41407G>A (p.Glu13803Lys)

dbSNP: rs727504780
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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 RCV000156097 SCV000205810 uncertain significance not specified 2014-05-22 criteria provided, single submitter clinical testing The Glu11235Lys variant in TTN has not been previously reported in any other fam ilies with cardiomyopathy or in large population studies. Computational predicti on tools and conservation analysis suggest that this variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, the clinical significance of the Glu11235Lys variant is uncertain.

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