Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000486264 | SCV000571841 | likely pathogenic | not provided | 2016-10-07 | criteria provided, single submitter | clinical testing | A novel c.1714dupT variant was identified in the EYA1 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1714dupT variant causes a frameshift starting with codon Tryptophan 572, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 60 of the new reading frame, denoted p.Trp572LeufsX60. c.1714dupT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay, as only the final 21 amino acids are replaced by 59 incorrect amino acids. However, downstream protein elongation variants have been reported in the Human Gene Mutation Database in association with branchiootorenal syndrome (Stenson et al., 2014). In the absence of RNA/functional studies, the actual effect of this variant is unknown. Therefore, we consider this variant to be likely pathogenic. |