ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.2T>G (p.Met1Arg)

gnomAD frequency: 0.00003  dbSNP: rs200076125
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219210 SCV001391135 likely pathogenic Immunodeficiency 104 2023-11-06 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the IL7R mRNA. The next in-frame methionine is located at codon 10. This variant is present in population databases (rs200076125, gnomAD 0.006%). Disruption of the initiator codon has been observed in individuals with severe combined immunodeficiency (PMID: 18641513; Invitae). ClinVar contains an entry for this variant (Variation ID: 948034). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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