ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)

dbSNP: rs398122368
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000262341 SCV000329523 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29907796, 22726846, 25168959)
Baylor Genetics RCV000074462 SCV000807306 uncertain significance Intellectual disability, autosomal dominant 15 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found twice in our laboratory de novo: in a 6-year-old male with global delays, autism spectrum, hypotonia, hydrocephalus, VUR, agenesis of the corpus callosum, myopia, pes cavus, elevated free T4; in an 8-year-old female with intellectual disability, behavior problems, hydrocephalus, dysmorphisms, amblyopia, myopic astigmatixm, hypoplastic labia majora, hypertonia, decreased muscle mass, dysphagia, Wilms tumor
SIB Swiss Institute of Bioinformatics RCV000074462 SCV000883290 uncertain significance Intellectual disability, autosomal dominant 15 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Coffin-Siris syndrome 3, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/22726846).
Baylor Genetics RCV001533133 SCV001748953 pathogenic SMARCB1-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000074462 SCV002023594 likely pathogenic Intellectual disability, autosomal dominant 15 2021-07-15 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, University of Torino RCV000074462 SCV004171091 likely pathogenic Intellectual disability, autosomal dominant 15 criteria provided, single submitter clinical testing
OMIM RCV000074462 SCV000108478 pathogenic Intellectual disability, autosomal dominant 15 2012-07-13 no assertion criteria provided literature only

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