ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)

gnomAD frequency: 0.00001  dbSNP: rs1408334891
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216085 SCV001387862 uncertain significance Deficiency of alpha-mannosidase 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 21 of the MAN2B1 protein (p.Pro21His). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 945441). 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.
GeneDx RCV001751403 SCV001986791 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001216085 SCV002027042 uncertain significance Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001216085 SCV002086948 uncertain significance Deficiency of alpha-mannosidase 2021-07-20 no assertion criteria provided clinical testing

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