Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723643 | SCV000700592 | pathogenic | not provided | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001203060 | SCV001374206 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 184 of the POMT2 protein (p.Thr184Met). This variant is present in population databases (rs267606971, gnomAD 0.003%). This missense change has been observed in individuals with muscular dystrophy-dystroglycanopathy (PMID: 17878207, 17923109, 25214167, 27447704, 30060766, 32528171, 33176815, 34413876). ClinVar contains an entry for this variant (Variation ID: 3229). 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 POMT2 protein function with a negative predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Revvity Omics, |
RCV000723643 | SCV002024728 | likely pathogenic | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000003385 | SCV002579158 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2N | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003472965 | SCV004204089 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003385 | SCV000023543 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2N | 2007-11-30 | no assertion criteria provided | literature only | |
Centre de Biologie Pathologie Génétique, |
RCV001252357 | SCV001428109 | uncertain significance | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |