ClinVar Miner

Submissions for variant NM_001289125.3(IFNAR2):c.311del (p.Glu104fs)

gnomAD frequency: 0.00001  dbSNP: rs775739391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556251 SCV004297377 pathogenic not provided 2023-05-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 218160). This premature translational stop signal has been observed in individual(s) with IFNAR2 deficiency (PMID: 26424569). This variant is present in population databases (rs775739391, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Glu104Glyfs*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).
OMIM RCV000202387 SCV000257402 pathogenic Immunodeficiency 45 2015-09-30 no assertion criteria provided literature only

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