ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1691C>T (p.Ala564Val)

dbSNP: rs727505068
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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 RCV000156504 SCV000206223 uncertain significance not specified 2014-03-28 criteria provided, single submitter clinical testing The Ala564Val variant in TTN has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that the Ala564Val variant may not impact the protein, though this information is not predictive enough to rule out pathogenic ity. Additional information is needed to fully assess the clinical significance of the Ala564Val variant.

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