Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000688799 | SCV000816423 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2024-12-10 | 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 63 of the TMEM127 protein (p.Arg63His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM127-related conditions. ClinVar contains an entry for this variant (Variation ID: 568440). 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. |
| Ambry Genetics | RCV001013570 | SCV001174177 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-06 | criteria provided, single submitter | clinical testing | The p.R63H variant (also known as c.188G>A), located in coding exon 1 of the TMEM127 gene, results from a G to A substitution at nucleotide position 188. The arginine at codon 63 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004568597 | SCV005054297 | uncertain significance | Pheochromocytoma | 2024-03-04 | criteria provided, single submitter | clinical testing |