ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.3608G>A (p.Arg1203His) (rs770680174)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523896 SCV000617625 likely pathogenic not provided 2017-08-28 criteria provided, single submitter clinical testing The R1203H variant in the SMARCA4 gene has been reported previously in an individual with a clinical diagnosis of Coffin-Siris syndrome (Santen et al., 2013; Kosho et al., 2014).This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R1203H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position within the ATPase domain (Witkowski et al., 2014) that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We therefore interpret R1203H as a likely pathogenic variant.
Baylor Genetics RCV000680104 SCV000807545 uncertain significance Mental retardation, autosomal dominant 16 2017-09-01 criteria provided, single submitter 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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