Our verdict is Likely pathogenic. Variant got 9 ACMG points: 9P and 0B. PVS1PM2_Supporting
The NM_000376(VDR):c.2T>G(p.Met1?) variant causes a start lost 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.
Verdict is Likely_pathogenic. Variant got 9 ACMG points.
GnomAD3 genomesCov.: 30
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at