ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002771585 SCV003031729 uncertain significance Deficiency of alpha-mannosidase 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 114 of the MAN2B1 protein (p.Arg114Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. 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. 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002771585 SCV004810300 uncertain significance Deficiency of alpha-mannosidase 2024-04-04 criteria provided, single submitter clinical testing

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