ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.830C>T (p.Pro277Leu)

gnomAD frequency: 0.00001  dbSNP: rs779091097
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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 RCV001992861 SCV002225389 uncertain significance Deficiency of alpha-mannosidase 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 277 of the MAN2B1 protein (p.Pro277Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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