ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003601597 SCV004414179 pathogenic Deficiency of alpha-mannosidase 2022-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp227*) 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 variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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