ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63035C>T (p.Pro21012Leu)

gnomAD frequency: 0.00001  dbSNP: rs1476856667
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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 RCV000601509 SCV000712250 uncertain significance not specified 2016-06-10 criteria provided, single submitter clinical testing The p.Pro18444Leu variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Pro18444Leu variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Pro18444Leu variant is uncertain.

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