ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62459T>C (p.Ile20820Thr)

gnomAD frequency: 0.00006  dbSNP: rs369446270
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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 RCV000040453 SCV000064144 uncertain significance not specified 2012-11-07 criteria provided, single submitter clinical testing The Ile18252Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/8252 E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemi cal amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, addi tional information is needed to fully assess the clinical significance of this v ariant.
Eurofins Ntd Llc (ga) RCV000725889 SCV000701185 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing

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