Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001981223 | SCV002283416 | uncertain significance | Diamond-Blackfan anemia 8 | 2022-11-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 152 of the RPS7 protein (p.Arg152Pro). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1492775). This variant has not been reported in the literature in individuals affected with RPS7-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Prevention |
RCV003418301 | SCV004109907 | uncertain significance | RPS7-related disorder | 2023-01-19 | criteria provided, single submitter | clinical testing | The RPS7 c.455G>C variant is predicted to result in the amino acid substitution p.Arg152Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |