Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003593858 | SCV004295227 | pathogenic | Melnick-Fraser syndrome | 2023-05-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects EYA1 function (PMID: 11734542, 15802522, 16797546, 24489909). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EYA1 protein function. ClinVar contains an entry for this variant (Variation ID: 7940). This variant is also known as S454P. This missense change has been observed in individuals with branchiootorenal syndrome (PMID: 8566479, 9361030, 10464653; Invitae). This variant is present in population databases (rs121909200, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 487 of the EYA1 protein (p.Ser487Pro). |
| OMIM | RCV000008402 | SCV000028610 | pathogenic | Branchiootorenal syndrome 1 | 1997-12-01 | no assertion criteria provided | literature only |