Total submissions: 2
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 |