ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.587dup (p.Asn197fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV004723644 SCV005326532 likely pathogenic Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2024-09-12 criteria provided, single submitter clinical testing The c.587dup variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in the literature in individuals affected with IRF2BPL-related conditions nor reported to the ClinVar, HGMD or OMIM databases, in any affected individuals. In-silico pathogenicity prediction programs likeMutationTaster2, CADD, Varsome, Franklin etc. predicted these variants to be likely deleterious. This variant causes frameshift at the 197th amino acid position of the wild-type transcript which creates a premature translational stop signal at the altered transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA.

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