ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)

gnomAD frequency: 0.00001  dbSNP: rs781046464
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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 RCV001870851 SCV002134383 uncertain significance Deficiency of alpha-mannosidase 2021-12-08 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 73 of the MAN2B1 protein (p.Asp73Gly). This variant is present in population databases (rs781046464, gnomAD 0.003%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV001870851 SCV002787837 uncertain significance Deficiency of alpha-mannosidase 2021-12-13 criteria provided, single submitter clinical testing

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