Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000260114 | SCV000338779 | uncertain significance | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000813122 | SCV000953464 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-02-22 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 195 of the CAPN3 protein (p.Asn195Thr). This variant is present in population databases (rs148855999, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of CAPN3-related conditions (PMID: 30564623). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 285651). 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. 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. |
Natera, |
RCV000813122 | SCV001461309 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome |
RCV001535726 | SCV001749827 | not provided | CAPN3-Related Disorders | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 11-11-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |