NM_018062.3:c.238C>G (p.Leu80Val) in FANCL is a missense variant observed at very low frequency in gnomAD (overall AF 0.015–0.018%) but with two homozygotes in gnomAD v4.1, which is unexpected for a fully penetrant autosomal recessive Fanconi anemia gene.¹ Multiple computational tools predict a benign effect: REVEL score 0.193, BayesDel score -0.271, and SpliceAI max delta 0.04, providing supporting evidence against pathogenicity (BP4_Supporting).² No functional studies, segregation data, de novo reports, or case-control data are available for this variant. It has been reported in ClinVar as Uncertain significance by six clinical laboratories with no expert panel review.³ No variant-specific evidence was identified in the literature. All ClinVar-associated publications are general guidelines (ACMG/AMP, Sherloc), carrier screening recommendations, GeneReviews, or PDQ cancer genetics summaries that do not mention or evaluate this specific variant.⁴ Under generic ACMG/AMP 2015 criteria, the available evidence yields one supporting pathogenic criterion (PM2_Supporting) and one supporting benign criterion (BP4_Supporting), resulting in an Uncertain significance classification.⁵