ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)

dbSNP: rs756680048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038590 SCV001202068 pathogenic Deficiency of alpha-mannosidase 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 837291). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu652*) 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).
Myriad Genetics, Inc. RCV001038590 SCV001442226 likely pathogenic Deficiency of alpha-mannosidase 2019-12-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001038590 SCV002014220 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing

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