Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266163 | SCV001444335 | pathogenic | Inborn genetic diseases | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002541624 | SCV002981012 | pathogenic | not provided | 2022-10-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg154Thrfs*75) in the RP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RP1 are known to be pathogenic (PMID: 11960024, 19933189). This variant is present in population databases (rs781249059, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 985322). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003908484 | SCV004724571 | likely pathogenic | RP1-related disorder | 2023-12-19 | criteria provided, single submitter | clinical testing | The RP1 c.458dupC variant is predicted to result in a frameshift and premature protein termination (p.Arg154Thrfs*75). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in RP1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |