Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003766568 | SCV000552561 | uncertain significance | Familial adenomatous polyposis 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | This variant, c.5026_5028del, results in the deletion of 1 amino acid(s) of the APC protein (p.Arg1676del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs768369050, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 411414). 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. |
Color Diagnostics, |
RCV000582605 | SCV000686996 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-01-27 | criteria provided, single submitter | clinical testing | This variant causes an in-frame deletion of one amino acid at exon 16 of the APC protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. 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 2/250196 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780835 | SCV000918435 | uncertain significance | not specified | 2018-03-30 | criteria provided, single submitter | clinical testing | Variant summary: APC c.5026_5028delAGA (p.Arg1676del) results in an in-frame deletion that is predicted to remove Arg1676 from the encoded protein. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5026_5028delAGA in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Ambry Genetics | RCV000582605 | SCV001185314 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-26 | criteria provided, single submitter | clinical testing | The c.5026_5028delAGA variant (also known as p.R1676del) is located in coding exon 15 of the APC gene. This variant results from an in-frame AGA deletion at nucleotide positions 5026 to 5028. This results in the in-frame deletion of an arginine at codon 1676. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003139665 | SCV003826828 | uncertain significance | not provided | 2022-11-30 | criteria provided, single submitter | clinical testing | |
3DMed Clinical Laboratory Inc | RCV000677746 | SCV000803902 | uncertain significance | Colon cancer | 2017-04-24 | no assertion criteria provided | clinical testing |