Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000354708 | SCV000341191 | uncertain significance | not provided | 2016-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000530566 | SCV000645515 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-06-07 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 266 of the CAPN3 protein (p.Ile266Thr). This variant is present in population databases (rs761142449, gnomAD 0.007%). 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: 287425). 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. |
Revvity Omics, |
RCV000354708 | SCV003828909 | uncertain significance | not provided | 2019-08-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000530566 | SCV002085480 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-02-03 | no assertion criteria provided | clinical testing |