ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1492del (p.Ala498fs)

dbSNP: rs1417035592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008181 SCV001167947 pathogenic not provided 2019-03-04 criteria provided, single submitter clinical testing The c.1243delG variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1243delG variant causes a frameshift starting with codon Alanine 415, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 15 of the new reading frame, denoted p.Ala415ProfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1243delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1243delG as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV001293361 SCV001481814 pathogenic Intellectual disability 2021-02-25 criteria provided, single submitter clinical testing The variant chr6-157100301-CG-C, ARID1B(NM_017519.3):c.1492delG,p.(Ala498Profs*15) was identified in an individual with NDD. Inheritance was de novo (heterozygous). The variant was reviewed according to current ACMG recommendations and classified as Pathogenic (criteria: PVS1_VeryStrong, PS2_Moderate, PM2_Supporting).
Genome-Nilou Lab RCV001807376 SCV002054263 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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