ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853408 SCV000995945 pathogenic Immunodeficiency, common variable, 13 2019-05-16 criteria provided, single submitter clinical testing This nonsense variant, found in exon 5 of 8 in one of the N-terminal zinc finger DNA-binding domains, is predicted to result in loss of normal protein function. This variant has not been previously described or functionally characterized in the literature to our knowledge, however, affected individuals with presumed loss-of-function variants have been reported (PMID 26981933). This variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. IKZF1 is highly constrained and intolerant of loss of function variants (pLI score: 0.99). This result was confirmed by Sanger sequencing. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.546C>A (p.Cys182Ter) variant is classified as Pathogenic.

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