ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.1920+5G>A

dbSNP: rs1064796564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481111 SCV000573388 likely pathogenic not provided 2017-02-17 criteria provided, single submitter clinical testing The c.1920+5G>A variant in the ARID1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the natural splice donor site in intron 4, which is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.1920+5G>A in this individual is unknown. Additionally, the c.1920+5G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret c.1920+5G>A as a likely pathogenic variant
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV005230950 SCV005874102 likely pathogenic Intellectual disability, autosomal dominant 14 2024-10-28 criteria provided, single submitter clinical testing PS2, PM2, PP3

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