ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) (rs763257568)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000206936 SCV000800761 likely pathogenic Deficiency of alpha-mannosidase 2017-05-10 criteria provided, single submitter clinical testing
Invitae RCV000206936 SCV001225168 pathogenic Deficiency of alpha-mannosidase 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 229 of the MAN2B1 protein (p.Arg229Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs763257568, ExAC 0.01%). This variant has been observed in individuals with mannosidosis (PMID: 22161967, 26048034). 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: 208258). This variant has been reported to affect MAN2B1 protein function (PMID:11959458, 22161967). For these reasons, this variant has been classified as Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206936 SCV000243964 uncertain significance Deficiency of alpha-mannosidase 2012-06-07 no assertion criteria provided literature only

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