ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.780dup (p.Gln261fs)

dbSNP: rs2476807479
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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 RCV003602390 SCV004445976 pathogenic Beta-D-mannosidosis 2023-03-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MANBA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln261Thrfs*7) 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).

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