Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002232861 | SCV000815169 | pathogenic | Melnick-Fraser syndrome | 2018-01-22 | criteria provided, single submitter | clinical testing | Loss-of-function variants in EYA1 are known to be pathogenic (PMID: 18220287). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with EYA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln228*) in the EYA1 gene. It is expected to result in an absent or disrupted protein product. |
| Victorian Clinical Genetics Services, |
RCV002470952 | SCV002768624 | pathogenic | Branchiootorenal syndrome 1 | 2020-05-21 | criteria provided, single submitter | clinical testing | A heterozygous nonsense variant was identified, NM_000503.5(EYA1):c.682C>T in exon 9 of 18 of the EYA1 gene. This nonsense variant is predicted to create a change of a glutamine to a premature stop codon at amino acid position 228 of the protein; NP_000494.2(EYA1):p.(Gln228*), resulting in nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. This variant has been previously reported in a patient with branchiootorenal syndrome and other variants predicted to result in NMD have been reported as pathogenic in individuals with the same condition (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |
| Equipe Genetique des Anomalies du Developpement, |
RCV002470952 | SCV003843227 | pathogenic | Branchiootorenal syndrome 1 | 2020-02-17 | criteria provided, single submitter | clinical testing |