ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala)

dbSNP: rs373553609
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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 RCV002023605 SCV002303384 uncertain significance Deficiency of alpha-mannosidase 2021-10-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 485 of the MAN2B1 protein (p.Gly485Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. 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.

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