Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727466 | SCV000708779 | likely pathogenic | not provided | 2017-05-24 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000597737 | SCV000800264 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000597737 | SCV003442854 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2023-04-24 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CAPN3 protein function. ClinVar contains an entry for this variant (Variation ID: 502152). This missense change has been observed in individual(s) with clinical features of autosomal recessive CAPN3-related conditions (PMID: 25987458). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 506 of the CAPN3 protein (p.Ile506Thr). |
Baylor Genetics | RCV003471964 | SCV004211509 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-25 | criteria provided, single submitter | clinical testing |