ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)

dbSNP: rs2024251717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385075 SCV001584786 pathogenic Deficiency of alpha-mannosidase 2023-07-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Cys36Leufs*37) 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).
Baylor Genetics RCV001385075 SCV004191910 likely pathogenic Deficiency of alpha-mannosidase 2023-01-15 criteria provided, single submitter clinical testing

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