Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041261 | SCV000064952 | uncertain significance | not specified | 2010-08-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Leu630Pro varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. This residue is conserved across species; however, computationa l analyses (PolyPhen, SIFT, AlignGVGD) provide inconsistent predictions regardin g the impact to the protein though this information is not very predictive of pa thogenicity anyway. In summary, the clinical significance of this variant cannot be determined at this time; however based upon the identification of the varian t in a patient with another explanation for hearing loss and without a variant o n the second copy of USH1C, we would lean towards a more likely benign role. |