ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.199G>C (p.Gly67Arg)

dbSNP: rs781589817
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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 RCV002901292 SCV003641603 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.199G>C (p.G67R) 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 199, causing the glycine (G) at amino acid position 67 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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