Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025231 | SCV001187380 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-02-23 | criteria provided, single submitter | clinical testing | The c.64_66delGTGinsATA variant, located in coding exon 2 of the MUTYH gene, results from an in-frame deletion of GTG and insertion of ATA at nucleotide positions 64 to 66. This results in the substitution of the valine residue for an isoleucine residue at codon 22, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |