ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)

dbSNP: rs1553437759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.

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