ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.3776G>A (p.Arg1259Gln)

gnomAD frequency: 0.00022  dbSNP: rs148604002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002034494 SCV002011627 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034494 SCV002171382 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968546 SCV004780284 uncertain significance AUTS2-related disorder 2024-02-15 no assertion criteria provided clinical testing The AUTS2 c.3776G>A variant is predicted to result in the amino acid substitution p.Arg1259Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.038% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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