Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001014027 | SCV001174684 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-17 | criteria provided, single submitter | clinical testing | The p.G67V variant (also known as c.200G>T), located in coding exon 1 of the TMEM127 gene, results from a G to T substitution at nucleotide position 200. The glycine at codon 67 is replaced by valine, an amino acid with dissimilar 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. |
| Invitae | RCV001043525 | SCV001207276 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TMEM127-related conditions. 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: 820506). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 67 of the TMEM127 protein (p.Gly67Val). |