ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.397del (p.His133fs) (rs1558752379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697217 SCV000825814 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-08-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TMEM127 gene (p.His133Ilefs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acids (~45%) of the TMEM127 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TMEM127-related disease. 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.
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001375863 SCV001572791 pathogenic Pheochromocytoma 2021-01-26 criteria provided, single submitter clinical testing

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