ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54188A>G (p.Tyr18063Cys)

gnomAD frequency: 0.00001  dbSNP: rs397517617
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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 RCV000040355 SCV000064046 uncertain significance not specified 2012-10-03 criteria provided, single submitter clinical testing The Tyr15495Cys variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, and SIFT) suggest that this variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. In addition, this variant is located in the 5' splice region an d may also impact the protein through a slice effect though additional studies a re needed to determine if splicing is altered. In summary, additional informatio n is needed to fully assess the clinical significance of this variant.
Eurofins Ntd Llc (ga) RCV000727039 SCV000705099 uncertain significance not provided 2017-01-18 criteria provided, single submitter clinical testing

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