ClinVar Miner

Submissions for variant NM_014339.7(IL17RA):c.942G>C (p.Pro314=)

dbSNP: rs41321447
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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 RCV001069001 SCV001234140 uncertain significance Immunodeficiency 51 2022-11-01 criteria provided, single submitter clinical testing This sequence change affects codon 314 of the IL17RA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IL17RA protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs41321447, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with IL17RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 862306). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693578 SCV005195262 uncertain significance not provided criteria provided, single submitter not provided

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