ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66778G>A (p.Glu22260Lys)

dbSNP: rs553988103
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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 RCV000152247 SCV000201059 uncertain significance not specified 2014-06-30 criteria provided, single submitter clinical testing The Glu19692Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Glu19692Lys vari ant is uncertain.

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