Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025963 | SCV001188253 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-08 | criteria provided, single submitter | clinical testing | The c.704_706delTGG variant (also known as p.V235del) is located in coding exon 9 of the MUTYH gene. This variant results from an in-frame TGG deletion at nucleotide positions 704 to 706. This results in the in-frame deletion of a valine at codon 235. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |