ClinVar Miner

Submissions for variant NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)

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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 RCV003152902 SCV003841422 likely pathogenic Nicolaides-Baraitser syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.90; 3Cnet: 0.86). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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