ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.2122del (p.Ala708fs)

dbSNP: rs1566785444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708590 SCV000837717 likely pathogenic IRF2BPL-related disorder 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV002249429 SCV002520291 pathogenic not provided 2022-05-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 89 amino acids are replaced with 58 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31607746, 30166628)

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