ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)

dbSNP: rs2145289566
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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 RCV001381974 SCV001580551 pathogenic Deficiency of alpha-mannosidase 2020-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu108*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This variant has not been reported in the literature in individuals with MAN2B1-related conditions. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.

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