Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001221200 | SCV001393226 | pathogenic | Hereditary pheochromocytoma-paraganglioma | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the TMEM127 mRNA. The next in-frame methionine is located at codon 85. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with paraganglioma-pheochromocytoma syndrome (PMID: 28384794, 29282712; Invitae). ClinVar contains an entry for this variant (Variation ID: 949685). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects TMEM127 function (PMID: 21156949). For these reasons, this variant has been classified as Pathogenic. |