ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) (rs121908822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530563 SCV000637916 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-04-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TMEM127 gene (p.Thr89Cysfs*34). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acids of the TMEM127 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with bilateral pheochromocytoma (PMID: 20154675). This variant is also known as c.264_267delCAGA in the literature. ClinVar contains an entry for this variant (Variation ID: 126966). A different truncation (p.Gln157*) that lies downstream of this variant has been determined to be pathogenic (PMID: 22419703, Invitae). This suggests that deletion of this region of the TMEM127 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114825 SCV000148720 likely pathogenic - adrenal bilateral pheochromocy Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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