ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg)

dbSNP: rs752079394
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979983 SCV002227354 uncertain significance Deficiency of alpha-mannosidase 2021-12-02 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is present in population databases (rs752079394, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 840 of the MAN2B1 protein (p.Gly840Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV003481211 SCV004224564 uncertain significance not provided 2022-05-17 criteria provided, single submitter clinical testing PP3, PM2
GeneDx RCV003481211 SCV005389691 uncertain significance not provided 2024-03-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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