Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040195 | SCV000063886 | uncertain significance | not specified | 2012-08-21 | criteria provided, single submitter | clinical testing | The Ala10706Val variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the va riant may not impact the protein and another mammal (rabbit) carries a valine (V al; this variant) at this position despite high nearby amino acid conservation. However, this information is not predictive enough to rule out pathogenicity. Ad ditional information is needed to fully assess the clinical significance of this variant. |