ClinVar

Description

The NM_000287.4 c.1992G>C variant in the PEX6 gene is a missense mutation that results in the substitution of glycine with arginine at codon 664 (p.Gly664Arg). This variant has been identified as mutated homozygous in the proband and heterozygous in her parent using Sanger sequencing method. This variant has been reported in individuals with peroxisomal biogenesis disorders, suggesting a potential pathogenic role. Using predictive tools such as SIFT and PolyPhen, this variant is assessed as likely deleterious. SIFT suggests that it may disrupt protein function, while PolyPhen indicates that it could be damaging to the protein's structure. In summary, this variant aligns with criteria set forth by the ClinGen PEX6 VCEP, indicating it may contribute to the patient's clinical presentation and warrant further investigation for potential implications in diagnosis and management. Functional studies are needed to elucidate the impact of this variant on protein function. Further evidence, including co-segregation analysis and population frequency data, should be considered to assess its clinical significance.