ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)

dbSNP: rs1789927813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001090150 SCV001245598 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2018-11-09 criteria provided, single submitter clinical testing Frameshift RV produces a stable transcript; confirmed by cDNA analysis +/- puromycin; patient good phenotypic match for condition
Baylor Genetics RCV001090150 SCV001529647 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2018-11-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GenomeConnect - Brain Gene Registry RCV001090150 SCV004176891 not provided Autism spectrum disorder due to AUTS2 deficiency no assertion provided phenotyping only Variant classified as Pathogenic and reported on 11-09-2018 by Baylor Genetics. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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