Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2_SupportingPM5BP4_Moderate
The NM_000130.5(F5):c.1601G>T(p.Arg534Leu) 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 benign 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. R534Q) has been classified as Likely pathogenic.
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
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