ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89111A>G (p.Tyr29704Cys)

gnomAD frequency: 0.00001  dbSNP: rs727504503
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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 RCV000155641 SCV000205349 uncertain significance not specified 2013-04-09 criteria provided, single submitter clinical testing The Tyr27136Cys variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in larg e European American and African American populations by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS), though it may be present in other populations. Computational analyses (biochemical amino acid properties, conserv ation, AlignGVGD, PolyPhen2, and SIFT) suggest do not provide strong support for or against an impact to the protein. At this time, additional studies are neede d to fully assess the clinical significance of this variant.

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