Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000132525 | SCV000187622 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-24 | criteria provided, single submitter | clinical testing | The c.4711_4713delGAT variant (also known as p.D1571del) is located in coding exon 15 of the APC gene. This variant results from an in-frame GAT deletion at nucleotide positions 4711 to 4713. This results in the in-frame deletion of an aspartic acid at codon 1571. This amino acid position is highly 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. |
Gene |
RCV000480821 | SCV000570617 | uncertain significance | not provided | 2019-04-30 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Variant located in the 20-aa repeat B-catenin down-regulating domain and the SAMP repeats/axin binding domain (Azzopardi 2008); This variant is associated with the following publications: (PMID: 25980754) |
Invitae | RCV003650399 | SCV000647534 | uncertain significance | Familial adenomatous polyposis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | This variant, c.4711_4713del, results in the deletion of 1 amino acid(s) of the APC protein (p.Asp1571del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587782888, gnomAD 0.003%). 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: 143006). 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, |
RCV000132525 | SCV000911472 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002247511 | SCV002516884 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002247511 | SCV004024368 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV002514757 | SCV004195815 | uncertain significance | Familial adenomatous polyposis 1 | 2023-10-18 | criteria provided, single submitter | clinical testing |