ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6533G>A (p.Trp2178Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004596707 SCV005088882 likely pathogenic Coffin-Siris syndrome 1 2021-02-24 criteria provided, single submitter clinical testing This variant is predicted to cause a premature termination of the protein and this will likely result in loss-of-function (LOF), and it is previously reported that LOF is a known mechanism for the causing the ARID1B-RD disease [PMID: 31132234]. This variant has not been previously reported in population databases or in the literature.

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