Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001027682 | SCV001190246 | likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency | 2019-05-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001027682 | SCV002572363 | likely pathogenic | Autism spectrum disorder due to AUTS2 deficiency | 2022-08-26 | criteria provided, single submitter | clinical testing | Variant summary: AUTS2 c.784C>T (p.Gln262X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in affected individuals (HGMD). The variant was absent in 251468 control chromosomes (gnomAD). To our knowledge, no occurrence of c.784C>T in individuals affected with Autism Spectrum Disorder due to AUTS2 Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014, and classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |