Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002457580 | SCV002736440 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-24 | criteria provided, single submitter | clinical testing | The c.2323_2325delATTinsTTC variant (also known as p.I775F), located in coding exon 9 of the AXIN2 gene, results from an in-frame deletion of ATT and insertion of TTC at nucleotide positions 2323 to 2325. This results in the substitution of the isoleucine residue for a phenylalanine residue at codon 775, an amino acid with highly similar properties. Based on data from gnomAD, the ATT>TTC allele has an overall frequency of 0.002% (5/251496) total alleles studied. The highest observed frequency was 0.023% (5/21646) of European alleles. 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. |
| Gene |
RCV002508363 | SCV002817820 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |