ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)

dbSNP: rs2145287284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387352 SCV001587962 pathogenic Deficiency of alpha-mannosidase 2020-04-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant has been observed in individual(s) with alpha-mannosidosis (PMID: 22161967). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr163Serfs*25) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product.

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