ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) (rs121908820)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000114823 SCV000190640 likely benign Pheochromocytoma 2014-06-01 no assertion criteria provided research
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114823 SCV000148718 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Invitae RCV000542037 SCV000637914 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-01-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 73 of the TMEM127 protein (p.Gly73Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs121908820, ExAC 0.01%). This variant has been reported in an individual affected with a pheochromocytoma (PMID: 21156949). ClinVar contains an entry for this variant (Variation ID: 126965). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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