Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000313399 | SCV000344788 | uncertain significance | not provided | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001240554 | SCV001413512 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-06-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 242 of the CAPN3 protein (p.Arg242Lys). This variant is present in population databases (rs146253209, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 290267). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Gene |
RCV000313399 | SCV001992556 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564623) |
Revvity Omics, |
RCV000313399 | SCV003828936 | uncertain significance | not provided | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001240554 | SCV002094456 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-10-28 | no assertion criteria provided | clinical testing |