ClinVar Miner

Submissions for variant NM_006084.5(IRF9):c.542G>A (p.Ser181Asn)

gnomAD frequency: 0.00013  dbSNP: rs199740615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392645 SCV001594291 likely benign not provided 2025-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037727 SCV003678872 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.542G>A (p.S181N) alteration is located in exon 5 (coding exon 4) of the IRF9 gene. This alteration results from a G to A substitution at nucleotide position 542, causing the serine (S) at amino acid position 181 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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