ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.626_627del (p.Ser209fs)

dbSNP: rs761669332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003700558 SCV004468841 pathogenic not provided 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser209Cysfs*7) in the IFNAR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFNAR2 are known to be pathogenic (PMID: 26424569, 33193576). This variant is present in population databases (rs761669332, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with IFNAR2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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