ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3031G>A (p.Gly1011Arg)

gnomAD frequency: 0.00001  dbSNP: rs397517546
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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 RCV000040168 SCV000063859 uncertain significance not specified 2012-09-19 criteria provided, single submitter clinical testing The Gly1011Arg 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, PolyPhen2, and SIFT) suggest that this va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Additional studies are needed to fully assess the cli nical significance of this variant.

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