ClinVar Miner

Submissions for variant NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761105 SCV000891020 uncertain significance Acute promyelocytic leukemia 2016-12-22 no assertion criteria provided clinical testing
Invitae RCV000700061 SCV000828800 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-05-23 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 11 of the TMEM127 protein (p.Gly11Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TMEM127-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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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