ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59618T>C (p.Leu19873Pro)

gnomAD frequency: 0.00001  dbSNP: rs727503589
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Total submissions: 2
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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 RCV000152271 SCV000201116 uncertain significance not specified 2014-08-28 criteria provided, single submitter clinical testing The Leu17305Pro 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 Leu17305Pro vari ant is uncertain.
CeGaT Center for Human Genetics Tuebingen RCV003886380 SCV004702518 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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