Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2_SupportingPP3
The NM_001348946(ABCB1):c.3435T>G(p.Ile1145Met) 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. Synonymous variant affecting the same amino acid position (i.e. I1145I) has been classified as Benign.
Verdict is Uncertain_significance. Variant got 2 ACMG points.
GnomAD3 genomesCov.: 31
ClinVarNot reported in
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