Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PVS1_ModeratePM2_SupportingBP6
The NM_001370466(NOD2):c.2938del(p.Glu981LysfsTer18) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in Lovd as Benign (no stars).
Verdict is Uncertain_significance. Variant got 2 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
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