ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1991C>T (p.Ala664Val)

gnomAD frequency: 0.00001  dbSNP: rs1465253843
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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 RCV003283231 SCV003987239 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.1991C>T (p.A664V) alteration is located in exon 1 (coding exon 1) of the IRF2BPL gene. This alteration results from a C to T substitution at nucleotide position 1991, causing the alanine (A) at amino acid position 664 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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