ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.32G>C (p.Arg11Thr)

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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 RCV004635602 SCV005121019 uncertain significance not specified 2024-04-17 criteria provided, single submitter clinical testing The c.32G>C (p.R11T) alteration is located in exon 2 (coding exon 1) of the IFNAR2 gene. This alteration results from a G to C substitution at nucleotide position 32, causing the arginine (R) at amino acid position 11 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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