Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634072 | SCV000755350 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-07-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 323 of the FKRP protein (p.Arg323His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with FKRP-related conditions (PMID: 16368217, 32864802). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 528824). 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 expected to disrupt FKRP protein function. For these reasons, this variant has been classified as Pathogenic. |
Genomic Research Center, |
RCV000662004 | SCV000784336 | uncertain significance | Muscular dystrophy-dystroglycanopathy type B5 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000662005 | SCV000784337 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2018-03-05 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000662005 | SCV002581887 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2022-08-29 | criteria provided, single submitter | clinical testing | |
Myelin Disorders Clinic- |
RCV001171504 | SCV001334159 | uncertain significance | Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | no assertion criteria provided | clinical testing |