Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512755 | SCV003524997 | pathogenic | not provided | 2023-07-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change does not substantially affect PAX3 function (PMID: 9302254). 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 expected to disrupt PAX3 protein function. ClinVar contains an entry for this variant (Variation ID: 4210). This variant is also known as G48A. This missense change has been observed in individual(s) with autosomal dominant Waardenburg syndrome (PMID: 8490648). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 81 of the PAX3 protein (p.Gly81Ala). |
OMIM | RCV000004430 | SCV000024603 | pathogenic | Waardenburg syndrome type 1 | 1995-11-01 | no assertion criteria provided | literature only |