Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000572262 | SCV000667701 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-31 | criteria provided, single submitter | clinical testing | The c.834+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 7 in the APC gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. RNA studies have demonstrated that this alteration does not result in abnormal splicing in the set of samples tested (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |