Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039641 | SCV000063330 | uncertain significance | not specified | 2011-11-07 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The 8155+4G>T varia nt in GPR98 has not been reported in the literature nor previously reported by o ur laboratory. This variant is located in the 5' splice region but does not affe ct the invariant +1 and +2 positions. However, positions +3 to +6 are part of th e splicing consensus sequence and variants involving these positions sometimes a ffect splicing. Although position +4 is part of the splice site region, the refe rence sequence was already divergent from consensus (normally an A at this posit ion) and therefore this variant is less likely to disrupt splicing. In addition , splicing prediction programs do not predict a lower score for splice consensus sequence matching. In summary, based upon the arguments described above, we wou ld lean towards a more likely benign role. |