Table 2 Gene variants identified in this study
From: Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Patient No. | Variant No. | Gene (transcript) | Nucleotide change | Amino acid change | Variant type | ACMG* level (evidence) |
|---|---|---|---|---|---|---|
1 | 1 | TCTN2 (NM_024809.5) | c.916 C > T | p.Q306* | Nonsense | Pathogenic (PVS1 + PM2-Supporting + PM3) |
2 | c.1147G > T | p.E383* | Nonsense | Likely pathogenic (PVS1 + PM2-Supporting) | ||
2 | 1 | CPLANE1 (NM_023073.4) | c.1819_1820insT | p.Y607Lfs*12 | Frameshift | Pathogenic (PVS1 + PM2 + PP5) |
2 | dup exon(34–41) | uncertain | CNV* | Likely pathogenic (PVS1-S + PM2) | ||
3 | 1 | INPP5E (NM_019892.6) | c.669_670delGC | p.A223Afs*66 | Frameshift | Likely pathogenic (PVS1 + PM2) |
2 | c.1393G > A | p.V465I | Missense | Likely pathogenic (PM1 + PM2 + PM3 + PP3) | ||
4 | 1 | NPHP1 (NM_000272.5) | del exon(1–20) | null | CNV* | Pathogenic (PVS1 + PM2 + PM3-Supporting) |
5 | 1 | CC2D2A (NM_001080522.2) | c.2728 C > T | p.R910*,711 | Truncation | Likely pathogenic (PVS1 + PM2) |
2 | c.4238G > A | p.C1413Y | Missense | Uncertain significance (PM3 + PP3) |