NM_001042492.2:c.6776T>C (p.Val2259Ala) is absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases (PM2_Supporting).1 Multiple in silico predictors suggest a neutral effect: REVEL score 0.29, BayesDel score -0.045, and SpliceAI max delta 0.08 (BP4_Supporting).2 ClinVar classifies this variant as Uncertain Significance (VariationID 826571, 1 clinical laboratory, criteria provided, single submitter).3 No variant-specific functional studies, de novo observations, segregation data, or case-control evidence were identified for this variant.4 With PM2 (supporting pathogenic) and BP4 (supporting benign) as the only met criteria, the evidence is insufficient to classify beyond Uncertain Significance. This classification is consistent with the existing ClinVar entry.5