ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter)

dbSNP: rs1292724234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV000677386 SCV001468853 likely pathogenic Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2019-06-08 criteria provided, single submitter clinical testing The c.379C>T (p.Gln127Ter) variant identified in the IRF2BPL gene leads to the premature termination of the protein at amino acid 127/797 (coding exon 1/1). This variant is absent from gnomAD and ExAC, suggesting it is not a common benign variant in the populations represented in these databases. It is reported as Pathogenic in ClinVar (VarID: 559609), and has been previously identified in a 16y female with global developmental delay, hypotonia, seizures, gait abnormalities with wheelchair dependence, and regession of gross and fine motor and speech abilities beginning at approximately 12 years of age [PMID: 30057031]. Given the deleterious nature of the c.379C>T (p.Gln127Ter) variant, its absence in population databases, and its previous report in a similarly affected individual, it is reported here as Likely Pathogenic.
OMIM RCV000677386 SCV000803649 pathogenic Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2018-12-20 no assertion criteria provided literature only

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