ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)

dbSNP: rs886054230
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000387844 SCV001365917 likely pathogenic Deficiency of alpha-mannosidase 2019-08-19 criteria provided, single submitter clinical testing The p.Cys501X variant in MAN2B1 has not been previously reported in individuals with alpha-mannosidosis and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 501, which is predicted to lead to a truncated or absent protein. Loss of function of the MAN2B1 gene is an established disease mechanism in autosomal recessive alpha-mannosidosis. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive alpha-mannosidosis. ACMG/AMP Criteria applied: PVS1, PM2.

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