ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46611G>T (p.Gln15537His)

dbSNP: rs727503625
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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 RCV000152348 SCV000201258 uncertain significance not specified 2014-11-17 criteria provided, single submitter clinical testing The p.Gln12969His 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 p.Gln12969His variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Gln12969His variant is uncertain.

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