ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)

dbSNP: rs281875226
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624821 SCV000741480 pathogenic Inborn genetic diseases 2016-04-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000023285 SCV003823970 uncertain significance Intellectual disability, autosomal dominant 16 2019-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000059684 SCV003930130 pathogenic not provided 2022-11-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31530938, 24658002, 22426308)
OMIM RCV000023285 SCV000044576 pathogenic Intellectual disability, autosomal dominant 16 2012-03-18 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059684 SCV000091254 not provided not provided no assertion provided not provided

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