ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.116T>G (p.Leu39Arg)

dbSNP: rs1684392845
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002003128 SCV002276023 uncertain significance Hereditary pheochromocytoma-paraganglioma 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 39 of the TMEM127 protein (p.Leu39Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TMEM127-related conditions. This variant is not present in population databases (ExAC no frequency).

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