ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) (rs746702002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572479 SCV001797127 pathogenic not provided 2020-06-19 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (absent alpha-mannosidase activity) (Riise Stensland et al., 2012); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22161967, 21505070)
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206959 SCV000243956 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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