Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004581036 | SCV005063580 | likely pathogenic | Deficiency of alpha-mannosidase | 2023-06-28 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts a region of the MAN2B1 protein in which other variant(s) (p.Gly891Arg) have been observed in individuals with MAN2B1-related conditions (PMID: 22161967). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 839971). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant results in the deletion of exon 21 and part of exon 22 (c.2437-300_2719del) of the MAN2B1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). |