Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039399 | SCV000063083 | uncertain significance | not specified | 2010-12-14 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The Gly334Val v ariant has not been reported in the literature and has not been previously detec ted in our laboratory. Glycine (Gly) at position 334 is conserved across in mam mals (more distant species were not available), which is consistent with a disea se causing role but is insufficient to prove pathogenicity. In addition, three c omputer programs (AlignGCGD, PolyPhen, SIFT) predict the variant to significantl y affect the protein?s function. In summary, additional studies are necessary t o determine the clinical significance of this variant. |