Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001797794 | SCV002041715 | uncertain significance | not specified | 2021-11-24 | criteria provided, single submitter | clinical testing | Variant summary: RP2 c.49C>T (p.Pro17Ser) results in a non-conservative amino acid change located in the Tubulin binding cofactor C-like domain (IPR012945) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.4e-05 in 118867 control chromosomes. c.49C>T has been reported in the literature in at-least one comprehensively genotyped (WES/large NGS panel) male and one female affected with Retinitis Pigmentosa, X-Linked (example, Xu_2014, Jespersgaard_2019). One of these reports grouped the individual (female) under a diagnostic category of "Generalized retinal dystrophy (non-syndromic)" (Jespersgaard_2019). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
| Fulgent Genetics, |
RCV002507356 | SCV002814516 | uncertain significance | Retinitis pigmentosa 2 | 2021-09-30 | criteria provided, single submitter | clinical testing | |
| Department of Clinical Genetics, |
RCV000787703 | SCV000926695 | likely pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research |