Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173104 | SCV000224189 | uncertain significance | not provided | 2014-06-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000669624 | SCV000794396 | uncertain significance | PMM2-congenital disorder of glycosylation | 2017-09-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000669624 | SCV000941708 | uncertain significance | PMM2-congenital disorder of glycosylation | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 21 of the PMM2 protein (p.Arg21Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs758340382, ExAC 0.02%). This missense change has been observed in individual(s) with clinical features of PMM2-related conditions (Invitae; https//www.omicsonline.org/clinical-and-molecular-features-of-patients-with-congenital-disorders-of-glycosylation-in-brazil-2161-0665.S3-001.pdf). ClinVar contains an entry for this variant (Variation ID: 193080). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg21 amino acid residue in PMM2. Other variant(s) that disrupt this residue have been observed in individuals with PMM2-related conditions (PMID: 23430905), which suggests that this may be a clinically significant amino acid residue. 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 | RCV002516577 | SCV003567893 | uncertain significance | Inborn genetic diseases | 2021-09-28 | criteria provided, single submitter | clinical testing | (Al Teneiji, 2017) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV000669624 | SCV004204837 | likely pathogenic | PMM2-congenital disorder of glycosylation | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173104 | SCV005327878 | uncertain significance | not provided | 2023-07-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23430905, 19862844, 34859900, 28122681, Brum2011[casereport]) |