Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001308081 | SCV001497516 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2023-08-22 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of POMGNT2-related conditions (PMID: 35131284). 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt POMGNT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1010449). This variant is present in population databases (rs147477491, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 561 of the POMGNT2 protein (p.Arg561Cys). |
| Gene |
RCV002276686 | SCV002567740 | uncertain significance | not provided | 2022-02-22 | 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 35131284) |
| Ambry Genetics | RCV002543222 | SCV003570598 | uncertain significance | Inborn genetic diseases | 2021-08-02 | criteria provided, single submitter | clinical testing | The c.1681C>T (p.R561C) alteration is located in exon 2 (coding exon 1) of the POMGNT2 gene. This alteration results from a C to T substitution at nucleotide position 1681, causing the arginine (R) at amino acid position 561 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Center for Genomic Medicine, |
RCV003989673 | SCV004806731 | uncertain significance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | 2024-03-26 | criteria provided, single submitter | clinical testing |