Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2_SupportingPM5PP3_Moderate
The NM_006446.5(SLCO1B1):c.521T>A(p.Val174Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V174A) has been classified as Likely benign.
Verdict is Uncertain_significance. Variant got 5 ACMG points.
GnomAD3 genomesCov.: 33
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.