Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2_SupportingPM5PP3
The NM_002386.4(MC1R):c.451C>A(p.Arg151Ser) variant causes a missense change. 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. R151C) has been classified as Likely benign.
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Verdict is Uncertain_significance. Variant got 4 ACMG points.
GnomAD3 genomesCov.: 33
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at