Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243724 | SCV001416900 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-09-15 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 493 of the CAPN3 protein (p.Arg493Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs143583537, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg493 amino acid residue in CAPN3. Other variant(s) that disrupt this residue have been observed in individuals with CAPN3-related conditions (PMID: 16141003, 27363342), which suggests that this may be a clinically significant amino acid residue. 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. |
Genome- |
RCV001580576 | SCV001810312 | uncertain significance | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001243724 | SCV001810313 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003145477 | SCV003828915 | uncertain significance | not provided | 2022-01-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001243724 | SCV002085515 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-03-23 | no assertion criteria provided | clinical testing |