ClinVar Miner

Submissions for variant NM_006820.4(IFI44L):c.530A>G (p.His177Arg)

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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 RCV004635557 SCV005123645 uncertain significance not specified 2024-03-30 criteria provided, single submitter clinical testing The c.530A>G (p.H177R) alteration is located in exon 4 (coding exon 3) of the IFI44L gene. This alteration results from a A to G substitution at nucleotide position 530, causing the histidine (H) at amino acid position 177 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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