No pathogenic or likely pathogenic variants detected

No mutations in the PSAT1 gene were identified. This result reduces the likelihood of PSAT1 phosphoserine aminotransferase deficiency but does not exclude it entirely, as mutations in deep intronic regions or large rearrangements may not be detected by this method. Clinical correlation and consideration of other genetic causes is advised.

Homozygous pathogenic variant detected

Two copies of the same pathogenic variant were identified in the PSAT1 gene, consistent with autosomal recessive inheritance. This finding supports a diagnosis of phosphoserine aminotransferase deficiency. Carrier testing for parents is recommended to confirm segregation.

Compound heterozygous pathogenic variants detected

Two different pathogenic or likely pathogenic variants were identified in the PSAT1 gene (one on each allele). This finding supports a diagnosis of phosphoserine aminotransferase deficiency. Parental testing is recommended for confirmation.

Heterozygous pathogenic variant detected (carrier)

A single pathogenic variant was identified, indicating carrier status. The individual is typically unaffected but has a 50% chance of passing the variant to offspring. If the partner is also a carrier, there is a 25% risk of having an affected child.

Variant of Uncertain Significance (VUS) detected

A genetic variant was identified in the PSAT1 gene, but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation, family studies, and functional analysis may help determine significance. Genetic counseling is recommended.