ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.3G>C (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs752517532
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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 RCV001918984 SCV002185345 uncertain significance Candidiasis, familial, 6 2024-01-22 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IL17F mRNA. The next in-frame methionine is located at codon 11. This variant is present in population databases (rs752517532, gnomAD 0.004%). Disruption of the initiator codon has been observed in individual(s) with primary immunodeficiency (PMID: 35874679). ClinVar contains an entry for this variant (Variation ID: 1412057). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596494 SCV005090721 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing

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