ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586278 SCV005077154 likely pathogenic Severe combined immunodeficiency disease 2024-04-19 criteria provided, single submitter clinical testing Variant summary: RAG1 c.2189G>T (p.Cys730Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251404 control chromosomes. c.2189G>T has been reported in the literature in at least one compound heterozygous individual affected with Severe Combined Immunodeficiency (e.g. Lee_2014). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in null VDJ recombination activity (e.g. Lee_2014). The following publication has been ascertained in the context of this evaluation (PMID: 24290284). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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