ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.1A>C (p.Met1Leu)

dbSNP: rs1316638883
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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 RCV001376896 SCV001574082 likely pathogenic Immunodeficiency 28 2022-02-10 criteria provided, single submitter clinical testing 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. Experimental studies have shown that disruption of the initiator codon affects IFNGR2 function (PMID: 31222290). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 1066015). Disruption of the initiator codon has been observed in individual(s) with Mendelian susceptibility to mycobacterial disease (MSMD) (PMID: 31222290). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the IFNGR2 mRNA. The next in-frame methionine is located at codon 80.

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