Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000561992 | SCV000667479 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-05 | criteria provided, single submitter | clinical testing | The c.7130_7144del15 variant (also known as p.N2377_Q2381del) is located in coding exon 15 of the APC gene. This variant results from an in-frame ACCTTACCAAACAAA deletion at nucleotide positions 7130 to 7144. This results in the deletion of five amino acids between codons 2377 and 2381. This region is well 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. |
Invitae | RCV003537120 | SCV002269139 | uncertain significance | Familial adenomatous polyposis 1 | 2023-07-22 | criteria provided, single submitter | clinical testing | This variant, c.7130_7144del, results in the deletion of 5 amino acid(s) of the APC protein (p.Asn2377_Gln2381del), 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: 482291). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). |
Sema4, |
RCV000561992 | SCV002527446 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-02 | criteria provided, single submitter | curation | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002530261 | SCV003807386 | uncertain significance | Familial adenomatous polyposis 1 | 2023-02-03 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2 supporting, PM4 |