ClinVar Miner

Submissions for variant NC_000004.11:g.(?_103590100)_(103611948_?)del

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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 RCV004580794 SCV005064818 pathogenic Beta-D-mannosidosis 2023-09-12 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 a gross deletion of the genomic region encompassing exon(s) 6-10 of the MANBA gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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