ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1936G>A (p.Val646Met)

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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 RCV004987955 SCV005605046 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The c.1936G>A (p.V646M) 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 1936, causing the valine (V) at amino acid position 646 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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