ClinVar

Description

Variant summary: RP2 c.632G>A (p.Arg211His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 183390 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.632G>A has been reported in the literature in one individual affected with distinct retinal dystrophies, without primary information (Pelletier_2007). These report(s) do not provide unequivocal conclusions about association of the variant with Retinitis Pigmentosa, X-Linked. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Liu_2017). The following publications have been ascertained in the context of this evaluation (PMID: 28209709, 16969763). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.