ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.-131-?_*3600del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231419 SCV000290375 pathogenic Hereditary pheochromocytoma-paraganglioma 2016-11-23 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TMEM127 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this particular copy number variant has not been reported in the literature, loss of function variants in TMEM127 are known to be pathogenic (PMID: 20154675, 21156949). For these reasons, this variant has been classified as Pathogenic.

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