ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51338C>T (p.Pro17113Leu)

dbSNP: rs763635220
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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 RCV000215859 SCV000272672 uncertain significance not specified 2015-11-03 criteria provided, single submitter clinical testing The p.Pro14545Leu variant in TTN has not been previously reported in the literat ure or in large population studies. Computational prediction tools and conservat ion analysis suggest that the p.Pro14545Leu variant may impact the protein, thou gh this information is not predictive enough to determine pathogenicity. In summ ary, the clinical significance of the p.Pro14545Leu variant is uncertain.

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