ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.205del (p.Arg69fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818809 SCV005438665 likely pathogenic Autism spectrum disorder due to AUTS2 deficiency 2023-06-22 criteria provided, single submitter clinical testing The observed frameshift c.205delp.Arg69GlyfsTer25 variant in AUTS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant causes a frameshift starting with codon Arginine 69, changes this amino acid to Glycine residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Arg69GlyfsTer25. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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