NM_000264.5:c.2438C>T (p.Pro813Leu) is a missense variant in exon 15 of PTCH1, a gene in which loss-of-function variants are an established cause of Gorlin syndrome (nevoid basal cell carcinoma syndrome).¹ This variant is absent from gnomAD v2.1 and present at extremely low frequency in gnomAD v4.1 (4/1,612,430 alleles, AF=2.48e-6, 0 homozygotes), meeting PM2 at moderate strength.² Multiple lines of computational evidence suggest no significant impact on the gene product: BayesDel score is 0.0037 (strongly predicts benign) and SpliceAI max delta is 0.01 (no splicing impact), meeting BP4 at supporting benign level.³ The variant has been reported in ClinVar as Uncertain significance by a single clinical laboratory (Labcorp/Invitae, SCV005813886). It has been observed somatically in COSMIC (COSV59468245, n=2) but this does not inform germline pathogenicity.⁴ No variant-specific functional studies, segregation data, case-control analyses, or de novo observations were identified. Five literature-triage papers (PMIDs 15604628, 20301330, 21304560, 26389210, 26389333) were reviewed; none mention NM_000264.5:c.2438C>T.⁵ Applying generic ACMG/AMP 2015 combination rules (PMID:25741868): one moderate pathogenic criterion (PM2) and one supporting benign criterion (BP4) are present. These do not meet the threshold for Likely Pathogenic, Likely Benign, Pathogenic, or Benign. The variant is classified as a Variant of Uncertain Significance.⁶