ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1017C>G (p.Asp339Glu)

dbSNP: rs928929617
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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 RCV002784063 SCV003749938 uncertain significance Inborn genetic diseases 2022-12-05 criteria provided, single submitter clinical testing The c.1017C>G (p.D339E) alteration is located in exon 1 (coding exon 1) of the IRF2BPL gene. This alteration results from a C to G substitution at nucleotide position 1017, causing the aspartic acid (D) at amino acid position 339 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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