ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) (rs766383135)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,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 2019-05-09 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with MAN2B1-related conditions. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). For these reasons, this variant has been classified as Pathogenic.

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