ClinVar Miner

Submissions for variant NM_014712.3(SETD1A):c.336del (p.Asp112fs)

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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 RCV004787558 SCV005402670 pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies 2024-11-20 criteria provided, single submitter clinical testing This variant was detected in a male with delayed speech and language development, global developmental delay, motor delay, Dandy-Walker malformation and obesity. The variant was confirmed to be of a de novo origin. Rare truncating variants affecting the SETD1A gene are well documented as a molecular cause of autosomal dominant "neurodevelopmental disorder with speech impairment and dysmorphic facies" (OMIM:619056) (PMID:32346159;26974950;25420024). To conclude, the variant is classified as pathogenic (ACMG PVS1, PM2, PS2).

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