ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5354C>G (p.Thr1785Arg)

gnomAD frequency: 0.00001  dbSNP: rs397517649
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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 RCV000040441 SCV000064132 uncertain significance not specified 2012-04-05 criteria provided, single submitter clinical testing The Thr1785Arg 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, AlignGVGD,and SIFT) suggest that this variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the clinical sig nificance of the Thr1785Arg variant.

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