Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180098 | SCV000232470 | uncertain significance | not provided | 2015-11-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001332158 | SCV001524377 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-10-30 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001332158 | SCV001544778 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2023-08-17 | criteria provided, single submitter | clinical testing | 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. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 359 of the CAPN3 protein (p.Pro359Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal recessive limb-girdle muscular dystrophy (PMID: 17596655, 22926650, 30564623, 34355366; Invitae). ClinVar contains an entry for this variant (Variation ID: 198690). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000180098 | SCV003828931 | likely pathogenic | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003474937 | SCV004211532 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-16 | criteria provided, single submitter | clinical testing |