Table 4 Gene test results and pathogenicity ratings according to ACMG and Sherloc
Patient | ABCC6 variant allele 1 | ACMG | Sherloc | ABCC6 variant allele 2 | ACMG | Sherloc |
|---|---|---|---|---|---|---|
1 | NA | NA | ||||
2 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |
3 | NA | NA | ||||
4 | NA | NA | ||||
5 | NA | NA | ||||
6 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |
7 | c.1171A > G, p.Arg391Gly | 3 | 3 [16] | Deletion of exons 2–30 | 3 | 3 |
8 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |
9 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |
10 | c.1132C > T p.Gln378Ter | 3 | 5a | c.1898G > T p.Ser633Ile | 3 | 4 |
11 | c.3614_3615del, p.(Ser1205Cysfs*72) | 4 | 5 | c.1999del, p.(Ala667Glnfs*21) | 4 | 5 |
12 | c.3421C > T, p.Arg1141Ter | 5 | 5 | Partial deletion in exons 2–4 | 5b | 3b |
13 | c.341C > G p.Thr114Arg | 3 | 3c | Deletion of exon 21 | 5b | 3b |
14 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |
15 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |
16 | deletion of exons 23–28 c.[2996-? 4041 + ?del] | 4 | 5 | deletion of exons 23–28 c.[2996-? 4041 + ?del] | 4 | 5 |
17 | NA | NA | ||||
18 | NA | NA | ||||
19 | NA | NA | ||||
20 | NA | NA | ||||
21 | c.3421C > T, p.Arg1141Ter | 5 | 5 | c.3421C > T, p.Arg1141Ter | 5 | 5 |