ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.1164A>G (p.Leu388=)

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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 RCV003515103 SCV004316436 uncertain significance Immunodeficiency 104 2023-09-11 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with IL7R-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 388 of the IL7R mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IL7R protein.

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