Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037730 | SCV000061392 | uncertain significance | not specified | 2011-08-15 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Asp40Asn varian t in TGFBR2 has not been reported in the literature or identified in our laborat ory in over 380 individuals. This residue is not highly conserved and computatio nal analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of im pact to the normal function of the protein. It should be noted that the sensitiv ity and specificity of these computational programs has not been determined by o ur laboratory. Therefore, the clinical significance of this variant cannot be de termined at this time. The clinical significance of this variant should be inter preted in the context of this individual's clinical manifestations. |