ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93101C>A (p.Thr31034Lys)

dbSNP: rs727504875
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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 RCV000156239 SCV000205955 uncertain significance not specified 2013-12-26 criteria provided, single submitter clinical testing The Thr28466Lys variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, PolyPhen2, and SIFT) suggest that this variant may impact the protein, though this information is not predictive enough to dete rmine pathogenicity. Additional information is needed to fully assess the clinic al significance of the Thr28466Lys variant.

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