ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77564T>A (p.Leu25855His)

dbSNP: rs397517710
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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 RCV000040628 SCV000064319 uncertain significance not specified 2013-04-12 criteria provided, single submitter clinical testing The Leu23287His variant in TTN has been identified by our laboratory in 1 Caucas ian individual with HCM, who also carried a pathogenic variant in another gene ( LMM unpublished data). Computational analyses (biochemical amino acid properties , conservation, PolyPhen2, and SIFT) suggest that this variant may impact the pr otein, though this information is not predictive enough to determine pathogenici ty. In summary, additional information is needed to fully assess the clinical si gnificance of this variant.

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