Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055638 | SCV001220038 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 154 of the CAPN3 protein (p.Ser154Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 851275). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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, |
RCV003145306 | SCV003830571 | uncertain significance | not provided | 2019-11-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003283918 | SCV003958020 | uncertain significance | Inborn genetic diseases | 2023-03-20 | criteria provided, single submitter | clinical testing | The c.461G>C (p.S154T) alteration is located in exon 3 (coding exon 3) of the CAPN3 gene. This alteration results from a G to C substitution at nucleotide position 461, causing the serine (S) at amino acid position 154 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001055638 | SCV002094445 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-01-28 | no assertion criteria provided | clinical testing |