ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)

gnomAD frequency: 0.00001  dbSNP: rs772562587
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779250 SCV000915813 uncertain significance Deficiency of alpha-mannosidase 2018-09-25 criteria provided, single submitter clinical testing The MAN2B1 c.856G>A (p.Glu286Lys) variant is a missense variant that has been reported in a compound heterozygous state with a second missense variant in one individual alpha-mannosidosis (Wu et al. 2014). The p.Glu286Lys variant was absent from 100 control subjects but was reported at a frequency of 0.000012 in the Total population of the Genome Aggregation Database. The evidence for this variant is limited. The p.Glu286Lys variant is classified as unknown significance but suspicious for pathogenicity for alpha-mannosidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Center for Human Genetics Tuebingen RCV002510974 SCV002822514 likely pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing MAN2B1: PM2, PM3, PP1, PP4
Baylor Genetics RCV000779250 SCV004191901 likely pathogenic Deficiency of alpha-mannosidase 2024-02-14 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000779250 SCV001428322 likely pathogenic Deficiency of alpha-mannosidase 2019-01-01 no assertion criteria provided clinical testing

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