ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) (rs1553153771)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498099 SCV000589704 likely pathogenic not provided 2015-11-28 criteria provided, single submitter clinical testing The A2137D variant in the ARID1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A2137D 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. The A2137D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The A2137D variant is a strong candidate for a pathogenic variant.
GenomeConnect, ClinGen RCV000509492 SCV000606921 not provided Coffin-Siris syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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