ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)

dbSNP: rs1057517708
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413202 SCV000490421 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34637754)
Institute of Human Genetics, University of Leipzig Medical Center RCV001841277 SCV002102439 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2022-02-10 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2_MOD, PS4_SUP, PM2_SUP
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001841277 SCV003035407 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2022-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000413202 SCV004548229 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg495*) 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 variant has not been reported in the literature in individuals affected with AUTS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 372310). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Diagnostic Laboratory, Strasbourg University Hospital RCV001260885 SCV001437985 uncertain significance Intellectual disability 2020-09-10 flagged submission clinical testing

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