PS1
Not assessed: no documented pathogenic same-amino-acid comparator was available for the DLST Ala79Val substitution.
PS2
Not assessed: no proband phenotype or parental genotype results establish de novo occurrence of NM_001933.5:c.236C>T.
PS3
Not assessed: no variant-specific functional assay, validated control comparison, or biological assay result is available for NM_001933.5:c.236C>T.
PS4
Not assessed: no affected-case series, control comparison, odds ratio, or statistically significant enrichment value is available for this exact variant.
PM1
Not assessed: no governing DLST domain table was available and no statistically significant hotspot was identified at residue 79.
PM3
Not assessed: no affected-proband observation, second pathogenic allele, or informative trans phase is documented for this DLST variant.
PM5
Not assessed: zero same-residue comparator variants were available, so no pathogenic alternate change at DLST residue 79 could be evaluated.
PM6
Not assessed: no affected individual or parental testing documents a presumed de novo occurrence for this DLST variant.
PP1
Not assessed: no pedigree, informative meioses, or affected-relative genotypes are available to demonstrate cosegregation.
PP2
Not assessed: no validated DLST-specific evidence establishes a predominant missense disease mechanism or low benign missense rate.
PP3
Not met: REVEL 0.519 is below the 0.644 supporting PP3 threshold for missense variants.
PP4
Not assessed: no individual phenotype or clinical diagnosis is provided to evaluate specificity for a DLST-related disorder.
PP5
Not met: the exact variant is absent from ClinVar, so no expert-panel Pathogenic or Likely pathogenic assertion exists to support PP5.
