ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003152856 SCV003841321 likely pathogenic Intellectual disability, autosomal dominant 16 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.60; 3Cnet: 0.50). The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID: 29095814). A different missense change at the same codon (p.Arg451Cys) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000937431). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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