ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.589C>T (p.Arg197Cys) (rs140860906)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000335726 SCV000432539 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569970 SCV000675314 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000817500 SCV000958064 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 197 of the TMEM127 protein (p.Arg197Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs140860906, ExAC 0.01%). This variant has not been reported in the literature in individuals with TMEM127-related conditions. ClinVar contains an entry for this variant (Variation ID: 337502). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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