Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000554350 | SCV000637932 | uncertain significance | Hereditary pheochromocytoma-paraganglioma | 2023-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 23 of the TMEM127 protein (p.Leu23Met). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 463856). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Baylor Genetics | RCV001294226 | SCV001483080 | uncertain significance | Pheochromocytoma | 2023-11-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002367841 | SCV002663794 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-10 | criteria provided, single submitter | clinical testing | The p.L23M variant (also known as c.67C>A), located in coding exon 1 of the TMEM127 gene, results from a C to A substitution at nucleotide position 67. The leucine at codon 23 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well 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. |