Table 3. Various pathogenic variants in different subtypes of neuronal ceroid lipofuscinosis.
| Patients (P) | Gene | Location | Variant | Zygosity | NCL Subtype | Classification (ACMG) |
|---|---|---|---|---|---|---|
| P1 | CLN3 | Exon 6 | NM_001042432.2:c.388G > A (V130I p.Val130Ile) | HOM | NCL3 | VUS |
| P2 | CLN5 | Exon3 | ENST00000377453.3:c.634G > A (p.Ala163Thr) | HOM | NCL5 | VUS |
| P3 | CLN6 | Exon 4 | NM_017882.3:c.476C > T (p.Pro159Leu) | HOM | NCL6 | VUS |
| P4 | Intron 6 | NM_017882.3:c.665 + 1G > T | HOM | NCL6 | P | |
| P5–P6 | Exon 7 | NM_017882.3:c.679G > A (p.Glu227Lys) | HOM | NCL6 | LP | |
| P7 | Exon 7 | NM_017882.3:c.775G > C (p.Gly259Arg) | HOM | NCL6 | LP | |
| P8–P9 | CLN8 | Exon 2 | NM_018941.4:c.522C > G (p.Cys174Trp) | HOM | NCL8 | LP |
| P10 | Exon 3 | NM_018941.4:c.592delA (p.Ile198PhefsTer10) | CH | NCL8 | P | |
| P10 | Exon 3 | NM_018941.4:c.610C > T (p.Arg204Cys) | CH | NCL8 | P | |
| P11 | GRN | Exon 9 | NM_002087.3:c.912G > A (p.Trp304Ter) | HOM | NCL11 | P |
| P12 | MFSD8 | Intron 2 | NM_152778.3:c.63-1G > A | HOM | NCL7 | P |
| P13 | Exon 5 | NM_152778.3:c.268G > C (p.Ala90Pro) | HOM | NCL7 | VUS | |
| P14 | Exon 10 | NM_152778.3:c.894T > G (p.Tyr298Ter) | HOM | NCL7 | P | |
| P15–P18 | PPT1 | Exon 7 | NM_000310.4:c.713C > T (p.Pro238Leu) | HOM | NCL1 | LP |
| P19 | TPP1 | Exon 1 | NM_000391.4:c.2T > C (p.Met1Thr) | HOM | NCL2 | P |
| P20 | Exon 8 | NM_000391.4:c.1015C > T (p.Arg339Trp) | HOM | NCL2 | P | |
| P21–P22 | Exon 9 | NM_000391.4:c.1080C > A (p.Asp360Glu) | HOM | NCL2 | LP | |
| P23 | Exon 12 | NM_000391.4:c.1544T > G (p.Leu515Arg) | HOM | NCL2 | LP |
Abbreviations: ACMG, American College of Medical Genetics and Genomics; CH, compound heterozygous; HOM, homozygous; LP, likely pathogenic; NCL, neuronal ceroid lipofuscinosis; P, pathogenic; PPT, palmitoyl protein thioesterase; TPP, tripeptidyl peptidase; VUS, variant of unknown significance.