ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)

dbSNP: rs1406466561
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668093 SCV000792641 pathogenic Deficiency of alpha-mannosidase 2017-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668093 SCV001220761 pathogenic Deficiency of alpha-mannosidase 2025-01-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser890*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with mannosidosis (PMID: 22161967). ClinVar contains an entry for this variant (Variation ID: 552770). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000668093 SCV001364014 pathogenic Deficiency of alpha-mannosidase 2019-05-02 criteria provided, single submitter clinical testing Variant summary: MAN2B1 c.2669C>G (p.Ser890X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 245278 control chromosomes (gnomAD). c.2669C>G has been reported in the literature in compound heterozygote individuals affected with Alpha-Mannosidosis (Rise Stensland_2012). These data indicate that the variant is likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Genome-Nilou Lab RCV000668093 SCV002014518 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668093 SCV004191908 pathogenic Deficiency of alpha-mannosidase 2023-11-27 criteria provided, single submitter clinical testing

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