Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040636 | SCV000064327 | uncertain significance | not specified | 2012-04-18 | criteria provided, single submitter | clinical testing | The Ile23556Phe variant (TTN) has not been reported in the literature nor previo usly idenitified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, PolyPhen2, and SIFT) suggest that the Ile23556Phe v ariant may impact the protein, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the clinical significance of this variant. |