Skip to main content
. Author manuscript; available in PMC: 2025 Aug 19.
Published in final edited form as: Genet Med. 2024 Jun 3;26(9):101174. doi: 10.1016/j.gim.2024.101174

Table 2.

SREBF2 variants identified in this study

Gene Variant Name (as used in this study) Genomic Change Transcript Change Protein Change Classification Pathogenicity Score
SREBF2 R519H NC_000022.11:g.41877398G>A NM_004599.4:c.1556G>A NP_004590.2:p.(Arg519His) Pathogenic PS2 and PS3
SREBF2 R519G NC_000022.11:g.41877397C>G NM_004599.4:c.1555C>G NP_004590.2:p.(Arg519Gly) Pathogenic PS2 and PS3

We identified de novo variants in SREBF2 from 2 individuals with dermatological, neurological, and skeletal phenotypes. Both variants are characterized as pathogenic based on the American College of Medical Genetics standards and guidelines,26 having ≥2 strong criteria for pathogenicity (PS2 and PS3 scores).