ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.968T>G (p.Val323Gly)

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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 RCV004631118 SCV005122322 uncertain significance Inborn genetic diseases 2024-03-26 criteria provided, single submitter clinical testing The c.968T>G (p.V323G) alteration is located in exon 1 (coding exon 1) of the IRF2BPL gene. This alteration results from a T to G substitution at nucleotide position 968, causing the valine (V) at amino acid position 323 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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