Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, |
RCV001089956 | SCV001244961 | likely pathogenic | Intellectual disability, autosomal dominant 27 | 2018-02-17 | criteria provided, single submitter | clinical testing | A heterozygous missense variant, NM_003108.3(SOX11):c.305C>T, has been identified in exon 1 of 1 of the SOX11 gene. The variant is predicted to result in a minor amino acid change from Alanine to Valine at position 102 of the protein (NM_003108.3(SOX11):p.(Ala102Val)). The Alanine residue at this position has very high conservation (100 vertebrates, UCSC), and is located within the HMG box functional domain. In-silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G) and has not previously been reported in clinical cases. Subsequent analysis of parental samples indicated this variant to be de novo. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC. |
| SIB Swiss Institute of Bioinformatics | RCV001089956 | SCV003839026 | likely pathogenic | Intellectual disability, autosomal dominant 27 | 2023-03-09 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo paternity and maternity not confirmed (PM6); Located in a mutational hot spot and/or critical and well-established functional domain (e.g., active site of an enzyme) without benign variation (PM1); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3). |