This variant is a missense substitution (c.1753A>G, p.Met585Val) in DDR2, a receptor tyrosine kinase associated with autosomal recessive spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL).¹ The variant is extremely rare in large population databases: present in 5 of 282,840 alleles in gnomAD v2.1 (AF=0.00177%) and 44 of 1,613,842 alleles in gnomAD v4.1 (AF=0.00273%), with no homozygotes observed. It is absent from gnomAD-Canada.² Multiple in silico predictors (REVEL 0.261, BayesDel -0.199, SpliceAI max delta 0.01) consistently suggest a benign impact on protein function and splicing.³ This variant has been reported in ClinVar as Uncertain significance by a single clinical laboratory (Ambry Genetics). No expert panel has reviewed this variant.⁴ No variant-specific functional studies, segregation data, de novo observations, or case-control data were identified in the literature or databases.⁵ All publications associated with this variant through ClinVar are general policy statements on newborn screening and carrier screening; none mention DDR2 or the specific variant NM_006182.3:c.1753A>G.⁶