Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV000850159 | SCV000992348 | uncertain significance | Branchiootic syndrome 1 | 2019-04-17 | criteria provided, single submitter | clinical testing | This EYA1 variant (rs763614581) is rare (<0.1%) in large population datasets (gnomAD: 1/250906 total alleles; 0.0003986%; no homozygotes). Additionally, c.415T>C has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the tyrosine residue at this position is evolutionarily conserved across all species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 6 splicing, although this has not been confirmed experimentally to our knowledge. The clinical significance of c.415T>C (p.Tyr139His) is uncertain at this time. |