ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.1013G>C (p.Ter338Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003014282 SCV003319166 uncertain significance Immunodeficiency 28 2022-02-25 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with IFNGR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the IFNGR2 mRNA. It is expected to extend the length of the IFNGR2 protein by 6 additional amino acid residues.

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