Table 5 of Salles, Mol Vis 2018; 24:546-559.


Table 5. Novel variant and variants with uncertain significance.

Patient 35 38 32 27
Nucleotide change c.6250G>C c.2007G>C c.455G>A c.2690C>T
Protein change p.Ala2084Pro p.Met669Ile p.Arg152Gln p.Thr897Ile
dbSNP N/A N/A rs62646862 rs61749440
ClinVar N/A N/A Conflicting Conflicting
CADD score/pathogenicity 34/
Deleterious 23.9/
Deleterious 21.5/
Deleterious 23.6/
Deleterious
MutationTaster score/pathogenicity 1/
Disease-causing 1/
Disease-causing 0.775/
Disease-causing 0.989/
Disease-causing
SIFT score/pathogenicity 0.019/
Deleterious 0.189/
Tolerated 0.124/
Tolerated 0.188/
Tolerated
PolyPhen-2 HumVar score/pathogenicity 1.000/
Damage 0.413/
Benign 0.015/
Benign 0.994/
Damage
1000 genomes N/A N/A 0,00159744 0,00159744
ExAC N/A N/A 0,0024 0,0011
References Novel variant 35 33 and 34 32