Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| CSER _CC_NCGL, |
RCV000590910 | SCV000700135 | uncertain significance | Colorectal cancer | 2016-10-01 | criteria provided, single submitter | research | Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 30 year old male diagnosed with colon cancer at age 30. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review. |
| Ambry Genetics | RCV004024695 | SCV002692190 | uncertain significance | not specified | 2023-05-31 | criteria provided, single submitter | clinical testing | The c.1281_1296del16 variant, located in coding exon 7 of the GALNT12 gene, results from a deletion of 16 nucleotides at nucleotide positions 1281 to 1296, causing a translational frameshift with a predicted alternate stop codon (p.W427Cfs*23). This alteration is expected to result in 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. |
| Labcorp Genetics |
RCV002530949 | SCV003002538 | uncertain significance | not provided | 2022-02-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp427Cysfs*23) in the GALNT12 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in GALNT12 cause disease. 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. ClinVar contains an entry for this variant (Variation ID: 496665). This variant has not been reported in the literature in individuals affected with GALNT12-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002530949 | SCV004219750 | uncertain significance | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | This variant alters the translational reading frame of the GALNT12 mRNA and is predicted to cause the premature termination of GALNT12 protein synthesis. This variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant. |
| Baylor Genetics | RCV004568309 | SCV005058829 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2024-01-19 | criteria provided, single submitter | clinical testing |