Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001240159 | SCV001413083 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 703 of the CAPN3 protein (p.Leu703Phe). This variant is present in population databases (rs751443759, gnomAD 0.03%). 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: 965655). 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: "Benign"; Align-GVGD: "Class C15"). 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. |
Al Jalila Children's Genomics Center, |
RCV002480792 | SCV002774992 | uncertain significance | not provided | 2022-12-17 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001240159 | SCV002085551 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-02-13 | no assertion criteria provided | clinical testing |