ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter) (rs1291147781)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NxGen MDx RCV001506971 SCV001653986 likely pathogenic Deficiency of alpha-mannosidase 2021-05-12 criteria provided, single submitter clinical testing This null variant (c.2515C>T) in exon 21 of 24 in MAN2B1 is predicted to cause premature termination of the primary amino acid chain (PVS1) and is not found in gnomAD databases (PM2). In silico models predict pathogenicity for this variant (PP3). There is one clinical report of this variant in Stensland et al. (PMID 22161967) with 2nd allele c.1527+2T>A. We interpret c.2515C>T to be likely pathogenic.

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