Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000714966 | SCV000899124 | uncertain significance | Retinitis pigmentosa 83 | 2019-01-10 | criteria provided, single submitter | curation | This variant is interpreted as a Uncertain significance for Retinitis pigmentosa 83, autosomal dominant The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6 =>Assumed de novo, but without confirmation of paternity and maternity. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. |
| Labcorp Genetics |
RCV001862010 | SCV002228199 | pathogenic | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 90 of the ARL3 protein (p.Tyr90Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 26964041, 30932721). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 587684). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000714966 | SCV000845731 | pathogenic | Retinitis pigmentosa 83 | 2019-04-29 | no assertion criteria provided | literature only |