ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)

dbSNP: rs1599344532
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815618 SCV000956079 pathogenic Deficiency of alpha-mannosidase 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp643*) 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 individual(s) with mannosidosis (PMID: 22161967). ClinVar contains an entry for this variant (Variation ID: 658737). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000815618 SCV002014253 pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000815618 SCV004191846 likely pathogenic Deficiency of alpha-mannosidase 2023-10-17 criteria provided, single submitter clinical testing

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