ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.1214+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004795259 SCV005415404 likely pathogenic Autism spectrum disorder due to AUTS2 deficiency 2024-11-27 criteria provided, single submitter clinical testing This variant was detected in a female with moderate moderate intellectual disability, microcephaly, delayed speech and language development. Rare splicing variants affecting the AUTS2 gene are documented as a molecular cause of "autosomal dominant intellectual developmental disorder 26" (MRD26, OMIM:615834) (PMID:27075013;25205402;23332918). There is a different splicing variant c.1214+1G>A in the LOVD database, classified as pathogenic/likely pathogenic (DB-ID: AUTS2_000154). To conclude, the variant is classified as likely pathogenic (ACMG PVS1, PM2).

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