Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000775357 | SCV000909641 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003535833 | SCV000950808 | uncertain significance | Familial adenomatous polyposis 1 | 2023-05-25 | 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. 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: 630204). This variant has been observed in individual(s) with medulloblastoma (PMID: 24651015). This variant is present in population databases (rs752826841, gnomAD 0.004%). This variant, c.8439_8441del, results in the deletion of 1 amino acid(s) of the APC protein (p.Lys2815del), but otherwise preserves the integrity of the reading frame. |
Ambry Genetics | RCV000775357 | SCV002680737 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing | The c.8439_8441delAAA variant (also known as p.K2815del) is located in coding exon 15 of the APC gene. This variant results from an in-frame AAA deletion at nucleotide positions 8439 to 8441. This results in the in-frame deletion of a lysine at codon 2815. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (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. |