ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.1649del (p.Arg550fs)

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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 RCV002928622 SCV003267248 pathogenic Beta-D-mannosidosis 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg550Hisfs*17) in the MANBA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MANBA are known to be pathogenic (PMID: 9384606, 12468273). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MANBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 2058638). For these reasons, this variant has been classified as Pathogenic.

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