ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)

gnomAD frequency: 0.00001  dbSNP: rs1553948361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002531373 SCV002929638 pathogenic Beta-D-mannosidosis 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser244*) 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: 558951). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000675792 SCV000801513 likely pathogenic not provided 2017-06-07 no assertion criteria provided clinical testing

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