ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923192 SCV003268302 uncertain significance Deficiency of alpha-mannosidase 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 874 of the MAN2B1 protein (p.Gly874Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MAN2B1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002923191 SCV003724638 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2620G>C (p.G874R) alteration is located in exon 21 (coding exon 21) of the MAN2B1 gene. This alteration results from a G to C substitution at nucleotide position 2620, causing the glycine (G) at amino acid position 874 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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