Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411220 | SCV000485421 | likely pathogenic | Deficiency of alpha-mannosidase | 2015-12-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000411220 | SCV001580512 | pathogenic | Deficiency of alpha-mannosidase | 2023-04-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370174). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. This variant is present in population databases (rs767323371, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser899*) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). |
Genome- |
RCV000411220 | SCV002014486 | pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000411220 | SCV004191921 | likely pathogenic | Deficiency of alpha-mannosidase | 2022-06-03 | criteria provided, single submitter | clinical testing |