ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1996G>A (p.Val666Met)

dbSNP: rs757908364
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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 RCV003254087 SCV003944954 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.1996G>A (p.V666M) alteration is located in exon 1 (coding exon 1) of the IRF2BPL gene. This alteration results from a G to A substitution at nucleotide position 1996, causing the valine (V) at amino acid position 666 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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