Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002629863 | SCV003523564 | uncertain significance | Deficiency of alpha-mannosidase | 2022-01-12 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 554 of the MAN2B1 protein (p.Ser554Gly). This variant is present in population databases (rs373101689, gnomAD 0.005%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
| Ambry Genetics | RCV002629862 | SCV003538445 | uncertain significance | Inborn genetic diseases | 2022-11-23 | criteria provided, single submitter | clinical testing | The c.1660A>G (p.S554G) alteration is located in exon 14 (coding exon 14) of the MAN2B1 gene. This alteration results from a A to G substitution at nucleotide position 1660, causing the serine (S) at amino acid position 554 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004783024 | SCV005394384 | uncertain significance | not specified | 2024-09-15 | criteria provided, single submitter | clinical testing |