ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)

gnomAD frequency: 0.00014  dbSNP: rs191035238
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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 RCV001244971 SCV001418228 uncertain significance Deficiency of alpha-mannosidase 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 654 of the MAN2B1 protein (p.Asp654Gly). This variant is present in population databases (rs191035238, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969587). 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 tolerated. 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.
Natera, Inc. RCV001244971 SCV002086914 uncertain significance Deficiency of alpha-mannosidase 2020-01-17 no assertion criteria provided clinical testing

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