ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.879+5G>A

gnomAD frequency: 0.00006  dbSNP: rs375538161
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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 RCV001913844 SCV002185888 uncertain significance Immunodeficiency 28 2022-07-01 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the IFNGR2 gene. It does not directly change the encoded amino acid sequence of the IFNGR2 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1409659). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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