Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000287741 | SCV000345941 | uncertain significance | not provided | 2016-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000697644 | SCV000826268 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-07-26 | criteria provided, single submitter | clinical testing | 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. 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 sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 160 of the CAPN3 protein (p.Ala160Pro). This variant is not present in population databases (gnomAD no frequency). 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: 291227). |
Ce |
RCV000287741 | SCV001246426 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing |