Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066769 | SCV001231788 | pathogenic | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects RP2 function (PMID: 20669900, 28209709). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 860467). This variant has been observed in individuals with retinitis pigmentosa (PMID: 10937588, 23150612, 24940031). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.409_411del, results in the deletion of 1 amino acid(s) of the RP2 protein (p.Ile137del), but otherwise preserves the integrity of the reading frame. |
Blueprint Genetics | RCV001074380 | SCV001239958 | pathogenic | Retinal dystrophy | 2019-07-30 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196483 | SCV001367091 | likely pathogenic | Retinitis pigmentosa 2 | 2020-01-19 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3,PM4. This variant was detected in hemizygous state. |