Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040628 | SCV000064319 | uncertain significance | not specified | 2013-04-12 | criteria provided, single submitter | clinical testing | The Leu23287His variant in TTN has been identified by our laboratory in 1 Caucas ian individual with HCM, who also carried a pathogenic variant in another gene ( LMM unpublished data). Computational analyses (biochemical amino acid properties , conservation, PolyPhen2, and SIFT) suggest that this variant may impact the pr otein, though this information is not predictive enough to determine pathogenici ty. In summary, additional information is needed to fully assess the clinical si gnificance of this variant. |