ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)

dbSNP: rs1585645384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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, LabCorp 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.

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