ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.375A>G (p.Arg125=)

gnomAD frequency: 0.00001  dbSNP: rs771587242
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000001748 SCV004280187 pathogenic Beta-D-mannosidosis 2024-01-30 criteria provided, single submitter clinical testing This sequence change affects codon 125 of the MANBA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MANBA protein. This variant is present in population databases (rs771587242, gnomAD 0.005%). This variant has been observed in individual(s) with mannosidosis (PMID: 18565776). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1680). Studies have shown that this variant is associated with inconclusive levels of altered splicing (PMID: 18565776). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001748 SCV000021904 pathogenic Beta-D-mannosidosis 2008-08-01 no assertion criteria provided literature only

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