Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2_SupportingPM5PP3
The NM_000771(CYP2C9):c.430C>A(p.Arg144Ser) variant causes a missense change involving the alteration of a non-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. R144C) has been classified as Likely benign.
Verdict is Uncertain_significance. Variant got 4 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
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No publications associated with this variant yet.