ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)

dbSNP: rs2129559195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001813923 SCV002060416 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2022-01-17 criteria provided, single submitter clinical testing The detected change has not been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. In the case of stop or nonsense variants in a gene that matches the phenotype, there is a high probability of pathogenetic relevance. The variant segregates with the phenotype (OMIMP 615834) within the family. The variant is currently to be regarded as a "pathogenic variant" (ACMG criteria).

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