ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59092G>T (p.Asp19698Tyr)

gnomAD frequency: 0.00002  dbSNP: rs397517642
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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 RCV000040415 SCV000064106 uncertain significance not specified 2012-07-03 criteria provided, single submitter clinical testing The Asp17130Tyr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. In addition, this variant has not been ident ified in large and broad populations by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong su pport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Asp17130Tyr variant.
CeGaT Center for Human Genetics Tuebingen RCV000997441 SCV001152846 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing

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