Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV004554820 | SCV005044095 | uncertain significance | Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 | 2021-11-19 | criteria provided, single submitter | clinical testing | The c.1523C>T variant identified in EYA1 has previously been reported in ClinVar [ClinVar ID: 560446] as a Variant of Unknown Significance. The variant is observed in 11 alleles with no homozygotes across population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8) suggesting it is not a common benign variant in the populations represented in those databases. The predicted p.(Ala508Val) variant affects a conserved residue in exon 16 of this 18-exon gene, and in silico algorithms are in favor of a damaging effect (CADD v1.6= 27.9, REVEL= 0.965). Of note, there are nearby missense variants reported in literature in individuals with EYA1-related Branchiootorenal syndrome. Based on available evidence, this inherited c.1523C>T (p.(Ala508Val)) variant identified in EYA1 is reported as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV004554820 | SCV005677289 | uncertain significance | Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 | 2024-04-08 | criteria provided, single submitter | clinical testing | |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000678554 | SCV000804633 | uncertain significance | Branchiootorenal syndrome 1 | 2016-09-01 | no assertion criteria provided | clinical testing |