ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)

dbSNP: rs1557612048
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000785930 SCV000924510 likely pathogenic Intellectual disability, autosomal dominant 14 2018-06-15 criteria provided, single submitter research The heterozygous p.Trp1023Arg variant was identified by our study in one individual with Coffin-Siris syndrome. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. The Tryptophan (Trp) at position 1023 is highly conserved in mammals and evolutionarily distant species, supporting that a change at this position may not be tolerated. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic.
GeneDx RCV001571164 SCV001795584 pathogenic not provided 2021-06-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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