Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Translational Genomics |
RCV000171232 | SCV000221429 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
Invitae | RCV000644992 | SCV000766728 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 777 of the CAPN3 protein (p.Ile777Val). This variant is present in population databases (rs149969786, gnomAD 0.02%). This missense change has been observed in individual(s) with distal posterior limb muscle atrophy and weakness (PMID: 27671536). ClinVar contains an entry for this variant (Variation ID: 191056). 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. |
Counsyl | RCV000644992 | SCV000800486 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000171232 | SCV000860850 | uncertain significance | not provided | 2018-04-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000644992 | SCV001456377 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |