ClinVar Miner

Submissions for variant NM_207585.3(IFNAR2):c.236del (p.Asp78_Leu79insTer)

dbSNP: rs1310889473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV001283731 SCV001423581 pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 2020-04-24 criteria provided, single submitter case-control The p.Leu79Ter variant in IFNAR2 gene has been identified in a compound heterozygous status with a frameshift variant in a patient with high fever and lethargy after live-attenuated MMR (measles-mumps-rubella) vaccine and was absent from large population studies. Additionally, ex vivo functional studies indicate that the Leu79Ter variant causes an impairment of type I IFN-mediated responses (Passarelli, submitted). In summary, the Leu79Ter variant meets our criteria to be classified as pathogenic based upon segregation studies, absence from controls and functional evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV001879919 SCV002238764 pathogenic not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu79*) 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 (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 33193576). This variant is also known as c.234delT. ClinVar contains an entry for this variant (Variation ID: 977219). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001780205 SCV005918549 likely pathogenic Immunodeficiency 45 2023-04-24 criteria provided, single submitter research
OMIM RCV001780205 SCV002025263 pathogenic Immunodeficiency 45 2021-11-19 no assertion criteria provided literature only

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