Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003742774 | SCV000647679 | uncertain significance | Familial adenomatous polyposis 1 | 2023-10-03 | criteria provided, single submitter | clinical testing | This variant, c.6898_6900del, results in the deletion of 1 amino acid(s) of the APC protein (p.Ser2300del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 470069). 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. |
| Ambry Genetics | RCV001025769 | SCV001188021 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | The c.6898_6900delTCT variant (also known as p.S2300del) is located in coding exon 15 of the APC gene. This variant results from an in-frame TCT deletion at nucleotide positions 6898 to 6900. This results in the in-frame deletion of a serine at codon 2300. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |