Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215912 | SCV001387680 | uncertain significance | Diamond-Blackfan anemia | 2023-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 126 of the RPL26 protein (p.Arg126His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPL26-related conditions. ClinVar contains an entry for this variant (Variation ID: 945300). 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 tolerated. 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. |
Genetic Services Laboratory, |
RCV001819905 | SCV002064630 | uncertain significance | not specified | 2019-07-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001215912 | SCV002625763 | uncertain significance | Diamond-Blackfan anemia | 2016-04-27 | criteria provided, single submitter | clinical testing | The p.R126H variant (also known as c.377G>A), located in coding exon 3 of the RPL26 gene, results from a G to A substitution at nucleotide position 377. The arginine at codon 126 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002480706 | SCV002803822 | uncertain significance | Diamond-Blackfan anemia 11 | 2022-04-29 | criteria provided, single submitter | clinical testing |