Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000779251 | SCV000915815 | uncertain significance | Deficiency of alpha-mannosidase | 2017-04-28 | criteria provided, single submitter | clinical testing | The MAN2B1 c.65G>A (p.Trp22Ter) variant is a stop-gained variant that is predicted to result in premature truncation of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium, but coverage of the genomic region is poor. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance, but suspicious for pathogenicity for alpha-mannosidosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Invitae | RCV000779251 | SCV001232217 | pathogenic | Deficiency of alpha-mannosidase | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp22*) 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). This variant is present in population databases (rs766383135, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 632304). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000779251 | SCV002014556 | likely pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000779251 | SCV002017216 | pathogenic | Deficiency of alpha-mannosidase | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535649 | SCV003719748 | uncertain significance | Inborn genetic diseases | 2022-05-06 | criteria provided, single submitter | clinical testing | May escape nonsense-mediated mRNA decay and/or be rescued by re-initiation Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV000779251 | SCV004191849 | pathogenic | Deficiency of alpha-mannosidase | 2023-10-16 | criteria provided, single submitter | clinical testing |