ClinVar Miner

Submissions for variant NM_002185.5(IL7R):c.205C>G (p.Leu69Val)

dbSNP: rs1580851879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV003992428 SCV004810396 uncertain significance Immunodeficiency 104 2024-04-01 reviewed by expert panel curation NM_002185.5(IL7R):c.205C>G is a missense variant predicted to cause substitution of Leucine by Valine at amino acid 69 (p.Leu69Val). The variant is absent in gnomAD v4 (PM2_supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with IL7R-related conditions or in functional studies. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to IL7R deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: PM2_Supporting (VCEP specifications version 1).
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center RCV000984126 SCV001132096 likely pathogenic Multiple myeloma 2019-08-31 no assertion criteria provided clinical testing

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