ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1298del (p.Leu433fs)

dbSNP: rs1057518198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413601 SCV000491641 pathogenic not provided 2016-10-25 criteria provided, single submitter clinical testing The c.1298delT pathogenic variant in the AUTS2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1298delT variant causes a frameshift starting with codon Leucine 433, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Leu433ProfsX40. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1298delT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1298delT as a pathogenic variant.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000413601 SCV000920545 pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001706624 SCV001934473 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2021-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000413601 SCV005703152 pathogenic not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu433Profs*40) in the AUTS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AUTS2 are known to be pathogenic (PMID: 25205402, 27075013). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with AUTS2-related conditions (PMID: 31618753). ClinVar contains an entry for this variant (Variation ID: 373078). For these reasons, this variant has been classified as Pathogenic.

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