Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000803635 | SCV000943516 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with histidine at codon 117 of the CAPN3 protein (p.Asn117His). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and histidine. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV002487710 | SCV002783413 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003489895 | SCV004234935 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000803635 | SCV002094442 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-10-27 | no assertion criteria provided | clinical testing |