Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |