ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)

gnomAD frequency: 0.00014  dbSNP: rs766383135
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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-Nilou Lab RCV000779251 SCV002014556 likely pathogenic Deficiency of alpha-mannosidase 2021-09-05 criteria provided, single submitter clinical testing
Revvity Omics, 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

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