ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.28139G>T (p.Gly9380Val)

dbSNP: rs397517528
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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 RCV000040077 SCV000063768 uncertain significance not specified 2012-05-23 criteria provided, single submitter clinical testing The Gly8136Val variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, PolyPhen2, and SIFT) suggest that the Gly8136Val var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the Gly8136Val variant.

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