Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004030340 | SCV001172953 | uncertain significance | not specified | 2024-07-15 | criteria provided, single submitter | clinical testing | The c.163_171dupACCCCGCGC variant (also known as p.T55_R57dup), located in coding exon 1 of the GALNT12 gene, results from an in-frame duplication of ACCCCGCGC at nucleotide positions 163 to 171. This results in the duplication of 3 extra residues (TPR) after codon 57. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Labcorp Genetics |
RCV001860712 | SCV002169703 | uncertain significance | not provided | 2024-10-31 | criteria provided, single submitter | clinical testing | This variant, c.163_171dup, results in the insertion of 3 amino acid(s) of the GALNT12 protein (p.Thr55_Arg57dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. ClinVar contains an entry for this variant (Variation ID: 819709). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001860712 | SCV004219765 | uncertain significance | not provided | 2022-12-30 | criteria provided, single submitter | clinical testing | The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant. |