Table 3 Disease-causing CHM sequence variants identified in the Australian cohort in the present study. Segregation was complete for all families, apart from Families 17 and 22, in which the variants established in the probands are presumed de novo.
Family ID | Nucleotide change | Exon/Intron(i) | Predicted protein | Predicted effect^ | Novel or Reported | Variant classification (ACMG) |
|---|---|---|---|---|---|---|
12 | c.1358_1359delinsG | 11 | p.(Ser453*) | Premature truncation of mRNA | Reported | Pathogenic |
13 | c.(?_-1)_(*1_?)del | 1-15 | NIL | Entire gene deletion# | Reported | Pathogenic |
14 | c.1584_1587del | 13 | p.(Val529Hisfs*7) | Premature truncation of mRNA | Reported | Pathogenic |
15 | c.799 C > T | 6 | p.(Arg267*) | Premature truncation of mRNA | Reported | Pathogenic |
16 | c.820-1 G > A | i6 | p.? | Abnormal splicing | Novel | Likely pathogenic |
17 | c.589dup | 5 | p.(Ser197Lysfs*2) | Premature truncation of mRNA | Novel | Pathogenic |
18 | c.49 + 1 G > T | i1 | p.? | Abnormal splicing | Reported | Pathogenic |
19 | c.1010_1015delinsCA | 8 | p.(Val337Alafs*6) | Premature truncation of mRNA | Novel | Pathogenic |
20 | c.1286_1287del | 10 | p.(Ser429*) | Premature truncation of mRNA | Reported | Pathogenic |
21 | c.(1770 + 1_1771-1)_(*1962_?)del | 15 | p.? | Exon 15 deletion# | Reported | Pathogenic |
22 | c.715 C > T | 6 | p.(Arg239*) | Premature truncation of mRNA | Reported | Pathogenic |
23 | c.(1770 + 1_1771-1)_(*1962_?)del | 15 | p.? | Exon 15 deletion# | Reported | Pathogenic |
24 | c.767_768del | 6 | p.(Glu256Valfs*2) | Premature truncation of mRNA | Novel | Pathogenic |
25 | c.999_1000insT | 8 | p.(Gln334Serfs*84) | Premature truncation of mRNA | Novel | Pathogenic |
