Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002004659 | SCV002232325 | uncertain significance | not provided | 2022-07-06 | 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. This sequence change creates a premature translational stop signal (p.Glu522*) in the GALNT12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the GALNT12 protein. This variant is not present in population databases (gnomAD no frequency). 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: 1449635). |
| Ambry Genetics | RCV004043930 | SCV002707729 | uncertain significance | not specified | 2023-04-11 | criteria provided, single submitter | clinical testing | The p.E522* variant (also known as c.1564G>T), located in coding exon 9 of the GALNT12 gene, results from a G to T substitution at nucleotide position 1564. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Baylor Genetics | RCV003471107 | SCV004198474 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2023-05-22 | criteria provided, single submitter | clinical testing |