ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.2250G>C (p.Gln750His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004987962 SCV005605056 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.2250G>C (p.Q750H) alteration is located in exon 1 (coding exon 1) of the IRF2BPL gene. This alteration results from a G to C substitution at nucleotide position 2250, causing the glutamine (Q) at amino acid position 750 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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