ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1606C>T (p.Gln536Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596672 SCV005088750 likely pathogenic Autism spectrum disorder due to AUTS2 deficiency 2021-11-17 criteria provided, single submitter clinical testing This variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However, several other truncating variants lying downstream of the variant, have been previously reported as pathogenic/likely pathogenicin the ClinVar database context of mental retardation, autosomal dominant 26.

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