Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644976 | SCV000766705 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-09-19 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 713 of the CAPN3 protein (p.Asn713Asp). This variant is present in population databases (rs748363488, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 536509). 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 CAPN3 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. |
Gene |
RCV001766384 | SCV001998038 | uncertain significance | not provided | 2019-10-16 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014) |
Fulgent Genetics, |
RCV002507100 | SCV002812734 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000644976 | SCV002085555 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-10-28 | no assertion criteria provided | clinical testing |