ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) (rs368899357)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206900 SCV001390765 pathogenic Deficiency of alpha-mannosidase 2019-08-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 451 of the MAN2B1 protein (p.Gly451Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. 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 been observed in individual(s) with mannosidosis (PMID: 22161967). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 208266). This variant has been reported to affect MAN2B1 protein function (PMID: 22161967, 21505070). For these reasons, this variant has been classified as Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206900 SCV000243972 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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