ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys)

gnomAD frequency: 0.00010  dbSNP: rs185112259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928006 SCV002177968 uncertain significance Deficiency of alpha-mannosidase 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 308 of the MAN2B1 protein (p.Arg308Cys). This variant is present in population databases (rs185112259, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1410243). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MAN2B1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV002261418 SCV002541499 uncertain significance not provided 2021-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002555780 SCV003676106 uncertain significance Inborn genetic diseases 2021-08-03 criteria provided, single submitter clinical testing The c.922C>T (p.R308C) alteration is located in exon 7 (coding exon 7) of the MAN2B1 gene. This alteration results from a C to T substitution at nucleotide position 922, causing the arginine (R) at amino acid position 308 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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