ClinVar Miner

Submissions for variant NM_001394372.1(BICRA):c.3300C>A (p.Tyr1100Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003493344 SCV004242048 pathogenic Coffin-Siris syndrome 12 2023-12-08 criteria provided, single submitter clinical testing Variant summary: BICRA c.3300C>A (p.Tyr1100X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 1435098 control chromosomes (gnomAD v4). To our knowledge, no occurrence of c.3300C>A in individuals affected with Coffin-Siris Syndrome 12 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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