Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038039 | SCV000061705 | uncertain significance | not specified | 2012-04-05 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Ile1430Phe vari ant in DSP has not been reported in the literature but has been identified by ou r laboratory in one infant with LVNC. Isoleucine (Ile) at position 1430 is not c onserved in mammals, and computational analyses (AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information i s not predictive enough to rule out pathogenicity. Although this data supports t hat the Ile1430Phe variant may be benign, additional studies are needed to fully assess its clinical significance. |