ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.2536del (p.Val846fs) (rs796052240)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190118 SCV000240199 pathogenic not provided 2016-12-12 criteria provided, single submitter clinical testing The c.2536delG pathogenic variant in the ARID2 gene has now been published as a disease-causing variant associated with ARID2-related disorders (Shang et al., 2015). The c.2536delG variant causes a frameshift starting with codon Valine 846, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Val846LeufsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2536delG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2536delG as a pathogenic variant
OMIM RCV000523398 SCV000616351 pathogenic COFFIN-SIRIS SYNDROME 6 2017-12-14 no assertion criteria provided literature only

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