Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000206941 | SCV000797518 | uncertain significance | Deficiency of alpha-mannosidase | 2018-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000206941 | SCV002193375 | pathogenic | Deficiency of alpha-mannosidase | 2022-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.His200 amino acid residue in MAN2B1. Other variant(s) that disrupt this residue have been observed in individuals with MAN2B1-related conditions (PMID: 22161967, 26048034), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects MAN2B1 function (PMID: 16919251, 21505070, 22161967). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 208255). This missense change has been observed in individual(s) with alpha mannosidosis (PMID: 16919251, 22161967, 26048034). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs772108001, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 200 of the MAN2B1 protein (p.His200Asn). |
Baylor Genetics | RCV000206941 | SCV004191919 | likely pathogenic | Deficiency of alpha-mannosidase | 2022-07-13 | criteria provided, single submitter | clinical testing | |
Clin |
RCV000206941 | SCV000243961 | uncertain significance | Deficiency of alpha-mannosidase | 2012-06-07 | no assertion criteria provided | literature only |