ClinVar Miner

Submissions for variant NM_006820.4(IFI44L):c.779T>G (p.Leu260Trp)

gnomAD frequency: 0.00001  dbSNP: rs1434616567
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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 RCV004400053 SCV004887709 uncertain significance not specified 2023-12-18 criteria provided, single submitter clinical testing The c.779T>G (p.L260W) alteration is located in exon 5 (coding exon 4) of the IFI44L gene. This alteration results from a T to G substitution at nucleotide position 779, causing the leucine (L) at amino acid position 260 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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