Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001265903 | SCV001444075 | uncertain significance | Inborn genetic diseases | 2023-10-13 | criteria provided, single submitter | clinical testing | The c.788A>G (p.H263R) alteration is located in coding exon 7 of the PPP2R5D gene. This alteration results from a A to G substitution at nucleotide position 788, causing the histidine (H) at amino acid position 263 to be replaced by an arginine (R). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for this alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003718393 | SCV004505597 | uncertain significance | not provided | 2023-06-20 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 985147). This variant has not been reported in the literature in individuals affected with PPP2R5D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 263 of the PPP2R5D protein (p.His263Arg). |