Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004030838 | SCV001185419 | uncertain significance | not specified | 2023-11-15 | criteria provided, single submitter | clinical testing | The c.509_511delAAG variant (also known as p.E170del) is located in coding exon 2 of the GALNT12 gene. This variant results from an in-frame AAG deletion at nucleotide positions 509 to 511. This results in the in-frame deletion of a glutamic acid at codon 170. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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 |
RCV001206391 | SCV001377698 | uncertain significance | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs747224942, ExAC 0.03%). 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with GALNT12-related conditions. This variant, c.509_511del, results in the deletion of 1 amino acid(s) of the GALNT12 protein (p.Glu170del), but otherwise preserves the integrity of the reading frame. |
| Baylor Genetics | RCV003467675 | SCV004196146 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2023-10-03 | criteria provided, single submitter | clinical testing |