ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro)

dbSNP: rs1987287426
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813168 SCV001474066 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001813168 SCV002966371 likely pathogenic not provided 2025-01-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 53 of the IFNAR2 protein (p.Ser53Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with IFNAR2-related conditions (PMID: 35442417). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 994273). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects IFNAR2 function (PMID: 35442417). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV002284216 SCV002573544 pathogenic Immunodeficiency 45 2024-03-01 no assertion criteria provided literature only

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