ClinVar Miner

Submissions for variant NM_005534.4(IFNGR2):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs1316638883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001268955 SCV005664067 likely pathogenic Immunodeficiency 28 2024-04-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001268955 SCV005698233 likely pathogenic Immunodeficiency 28 2024-08-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IFNGR2 mRNA. The next in-frame methionine is located at codon 80. This variant is present in population databases (no rsID available, gnomAD 0.007%). Disruption of the initiator codon has been observed in individual(s) with clinical features of mendelian susceptibility to mycobacterial disease (PMID: 31222290). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 987732). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects IFNGR2 function (PMID: 31222290). 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.
OMIM RCV001268955 SCV001448209 pathogenic Immunodeficiency 28 2021-10-08 no assertion criteria provided literature only

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