ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.3044G>T (p.Gly1015Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004785132 SCV005397635 likely pathogenic Intellectual disability, autosomal dominant 14 2023-11-21 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>T) at position 3044 of the coding sequence of the ARID1A gene that results in a glycine to valine amino acid change at residue 1015 of the AT-rich interaction domain 1A protein. This novel variant is absent from ClinVar, publications, and the gnomAD v4.0.0 population database (0/~1614000 alleles). Multiple bioinformatic tools predict that this glycine to valine amino acid change would be damaging, and the Gly1015 residue at this position is highly conserved across the vertebrate species examined. Studies examining the functional consequence of this variant have not been performed, to our knowledge. Based upon the evidence, we consider this variant to be likely pathogenic. ACMG Criteria: BP1, PM2, PP3, PS2

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