Table 1 of Zhang, Mol Vis 2024; 30:175-187.


Table 1. Pathogenic variants identified in this study and analysis of the variants by predictive programs.

Gene Exon Nucleotide Changes Amino Acid Changes Variant type Allele MT PP2 SIFT NG2 NNSP HSF In-house MAF ACMG ClinVar ID
PPT1 1 c.24G>A p.(W8X) NS 1 DC - - - - - - - LP novel
PPT1 3 c.280A>C p.(T94P) MS 1 PO B T N N N - - U novel
PPT1 3 c.338G>T p.(G113V) MS 1 DC PD D N N N - - LP novel
PPT1 3 c.348G>C p.(Q116H) MS 1 DC PD D N N N - - LP novel
PPT1 5 c.490C>T p.(R164X) NS 1 DC - - - - - - 0.0001 P 56,197
PPT1 6 c.595A>G p.(S199G) MS 1 DC PD D - - - - - LP novel
CLN3 4 c.206C>A p.(S69X) NS 1 DC - - - - - - - LP novel
CLN3 9 c.553T>C p.(S185P) MS 1 DC PD D N N N 0.00022 0.00022 LP novel
CLN3 12 c.838G>T p.(G280C) MS 1 DC PD D SC N N - - LP novel
CLN3 12 c.906+5G>A p.(?) SP 2 - - - SC SC SC - - LP 56,291
CLN3 13 c.962+1G>A p.(?) SP 1 DC - - SC SC SC 0.00022 0.00022 P 370,144
CLN3 14 c.963–13A>G p.(W321delinsCPNLR) SP 1 - - - SC SC SC - - LP novel
CLN3 14 c.976dupT p.(Y326Lfs*56) FS 1 DC - - - - - - - LP novel
CLN3 14 c.1001G>A p.(R334H) MS 2 DC PD D N N N - 0.00002407 P 56,244
CLN3 15 e15–16del p.(?) CNV 1 - - - - - - - - P novel
CLN3 16 c.1213C>T p.(R405W) MS 1 DC PD D N N N - 0.00003298 LP 418,137
MFSD8 11 c.1006G>A p.(E336K) MS 3 DC PD D N N N - 0 LP 284,230
MFSD8 12 c.1268C>G p.(A423G) SP 1 PO B T SC SC SC - - LP novel
MFSD8 12 c.1345_1346del p.(P449Sfs*72) FS 1 DC - - - - - - - LP novel
MFSD8 13 c.1351–1G>A p.(?) SP 2 - - - SC SC SC 0.00022 0.0001 LP 1,180,775
MFSD8 13 c.1391C>T p.(A464V) MS 1 DC PD D N N N - 0 LP 1,004,070