Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003293512 | SCV004004026 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The c.4488_4496delAGATTTTGA variant (also known as p.E1499_F1501del) is located in coding exon 22 of the DICER1 gene. This variant results from an in-frame AGATTTTGA deletion at nucleotide positions 4488 to 4496. This results in the in-frame deletion of a glutamic acid, aspartic acid, and phenylalanine at codons 1499-1501. This amino acid position region well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |