Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000375518 | SCV000331044 | likely benign | not specified | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644989 | SCV000766723 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-11-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 691 of the CAPN3 protein (p.Gly691Arg). This variant is present in population databases (rs140425651, gnomAD 0.09%). 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: 281011). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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, |
RCV003144189 | SCV003828979 | uncertain significance | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000644989 | SCV001460846 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-04-17 | no assertion criteria provided | clinical testing |