ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89545G>T (p.Val29849Phe)

dbSNP: rs727504493
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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 RCV000155628 SCV000205336 uncertain significance not specified 2013-04-05 criteria provided, single submitter clinical testing The Val27281Phe variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has also not been identified in large European American and African American populations by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS), though it may be present in other populations. Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. At this time, additional information is neede d to fully assess the clinical significance of this variant.

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