ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) (rs121908818)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Familial Cancer Clinic,Veneto Institute of Oncology RCV000114821 SCV000148716 likely pathogenic - adrenal pheochromocytoma Pheochromocytoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Invitae RCV000542243 SCV000637911 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-05-04 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with serine at codon 53 of the TMEM127 protein (p.Trp53Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with pheochromocytomas and/or paragangliomas (PMID: 21156949, 22136840). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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