Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000294421 | SCV000334248 | uncertain significance | not provided | 2015-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000817085 | SCV000957625 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 541 of the CAPN3 protein (p.Arg541Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of CAPN3-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 282677). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg541 amino acid residue in CAPN3. Other variant(s) that disrupt this residue have been observed in individuals with CAPN3-related conditions (PMID: 14981715, 16141003), 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 |
RCV001535803 | SCV001749974 | not provided | CAPN3-Related Disorders | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 03-09-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |