Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644978 | SCV000766708 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-05-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 590 of the CAPN3 protein (p.Val590Leu). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 536511). |
Natera, |
RCV000644978 | SCV001454344 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |