The NM_000448.3:c.86A>G variant in RAG1 is a missense variant predicted to cause a substitution of lysine by arginine at amino acid 29 (p.Lys29Arg). The Popmax filtering allele frequency of this variant in gnomAD v2.1.1 is 0.00000702, which is lower than the SCID-VCEP’s threshold for PM2 (<0.000102). No homozygous individual has been observed in the gnomAD v2.1.1 (PM2_Supporting). This variant has not been reported in the literature in individuals with SCID. In ClinVar, the variant was reported in two affected individuals who didn't have a second RAG1 variant, and the variant was classified as a Variant of Uncertain Significance (Invitae, SCV003292718.1). There is no functional evidence for this variant. Due to insufficient evidence, this variant is classified as a variant of uncertain significance for SCID. ACMG/AMP criteria applied, as specified by the ClinGen SCID-VCEP: PM2_supporting (SCID VCEP specifications version 1.0).