No Pathogenic Variants Detected

No disease-causing mutations were identified in the ABCB11 gene. This significantly reduces but does not entirely eliminate the possibility of BRIC2. Clinical correlation and consideration of other genetic or non-genetic causes of cholestasis is advised.

Pathogenic or Likely Pathogenic Variant(s) Detected (Homozygous)

Two copies of a pathogenic or likely pathogenic variant were identified, consistent with an autosomal recessive inheritance pattern. This finding strongly supports a diagnosis of BRIC2 or a related ABCB11-related disorder. Differentiation from PFIC2 should be based on clinical course.

Pathogenic or Likely Pathogenic Variant(s) Detected (Compound Heterozygous)

Two different pathogenic or likely pathogenic variants were identified on opposite alleles of the ABCB11 gene. This is consistent with an autosomal recessive disorder and supports a diagnosis of BRIC2. Genetic counselling for family members is recommended.

Single Heterozygous Pathogenic Variant Detected

One pathogenic variant was detected, indicating the individual is a carrier. The individual is unlikely to be affected but may pass the variant to offspring. Carrier testing for partners and genetic counselling are recommended if family planning is relevant.

Variant of Uncertain Significance (VUS) Detected

A variant was identified whose clinical significance is currently undetermined. Further testing of family members, functional studies, or updated database reviews may help clarify pathogenicity. Clinical management should be based on symptoms and clinical findings rather than the VUS alone.