ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)

dbSNP: rs770680174
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523896 SCV000617625 pathogenic not provided 2022-10-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25168959, 24090879, 25326635, 23929686, 24658002)
CeGaT Center for Human Genetics Tuebingen RCV000523896 SCV001249697 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533132 SCV001748952 likely pathogenic SMARCA4-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000680104 SCV002056206 likely pathogenic Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV000680104 SCV000807545 uncertain significance Intellectual disability, autosomal dominant 16 2017-09-01 flagged submission clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 2-year-old male with global delays, agenesis of the corpus callosum, hypoplastic cerebellar vermis, cleft palate, Pierre-Robin, apnea, GERD, growth failure, ptosis, pyloric stenosis, dysmorphisms, microcephaly, hypoplastic 4th & 5th nails

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