Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078091 | SCV000109929 | uncertain significance | not provided | 2013-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644988 | SCV000766722 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-06-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 740 of the CAPN3 protein (p.Gly740Ser). This variant is present in population databases (rs398123145, gnomAD 0.008%). 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: 92410). 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 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. |
Revvity Omics, |
RCV000078091 | SCV003828987 | uncertain significance | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000644988 | SCV001456371 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |