ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1610C>G (p.Ala537Gly)

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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 RCV004631119 SCV005122323 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.1610C>G (p.A537G) 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 1610, causing the alanine (A) at amino acid position 537 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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