Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534672 | SCV000827650 | uncertain significance | Familial adenomatous polyposis 1 | 2023-07-12 | criteria provided, single submitter | clinical testing | This variant, c.5238_5240del, results in the deletion of 1 amino acid(s) of the APC protein (p.Ile1746del), but otherwise preserves the integrity of the reading frame. 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, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 576456). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Color Diagnostics, |
RCV001187932 | SCV001354870 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-02-09 | criteria provided, single submitter | clinical testing | This variant causes a deletion of 1 amino acid from the APC protein. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/250650 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV001187932 | SCV002644999 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-21 | criteria provided, single submitter | clinical testing | The c.5238_5240delAAT variant (also known as p.I1746del) is located in coding exon 15 of the APC gene. This variant results from an in-frame AAT deletion at nucleotide positions 5238 to 5240. This results in the in-frame deletion of an isoleucine at codon 1746. This amino acid position is 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). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV002533547 | SCV004203913 | uncertain significance | Familial adenomatous polyposis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing |