Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP4_Moderate
The NM_005576(LOXL1):c.422G>A(p.Arg141Gln) 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. 11/19 in silico tools predict 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. R141L) has been classified as Uncertain significance.
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 33 GnomAD4 exome AF: 6.95e-7AC: 1AN: 1439534Hom.: 0 AF XY: 0.00AC XY: 0AN XY: 716566
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at