Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011291 | SCV001171593 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-05-18 | criteria provided, single submitter | clinical testing | The p.E461G variant (also known as c.1382A>G), located in coding exon 14 of the MUTYH gene, results from an A to G substitution at nucleotide position 1382. The glutamic acid at codon 461 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |