ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.1015del (p.Ala339fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149120 SCV003836665 pathogenic Intellectual disability, autosomal dominant 14 2020-01-02 criteria provided, single submitter clinical testing
New York Genome Center RCV003149120 SCV005044118 pathogenic Intellectual disability, autosomal dominant 14 2022-06-16 criteria provided, single submitter clinical testing The de novo one nucleotide deletion [c.1015del p.(Ala339LeufsTer24)] identified in exon 1 (of 20) of the ARID1A gene has not been reported in affected individuals in the literature. The variant alters the wild-type translational reading frame and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1015del variant is absent from population databases (gnomADv2, gnomADv3, TOPMed Freeze 8) suggesting it is not a common benign variant in populations represented in those databases. Based on the available evidence, the de novo c.1015del, p.(Ala339LeufsTer24) variant identified in the ARID1A gene is reported as Pathogenic.

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