ClinVar Miner

Submissions for variant NM_006820.4(IFI44L):c.475G>C (p.Glu159Gln)

gnomAD frequency: 0.00005  dbSNP: rs368426493
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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 RCV004191446 SCV003681382 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The c.475G>C (p.E159Q) alteration is located in exon 2 (coding exon 1) of the IFI44L gene. This alteration results from a G to C substitution at nucleotide position 475, causing the glutamic acid (E) at amino acid position 159 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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