Table 1 Patients with a CNV previously described as VUS classified as pathogenic and likely pathogenic
CNV arr [hg19] | Type | Transmission | New class | ACMG score | CNV nb. | Related to the primary medical reason for testing | Indication | Gender | Age (year) |
|---|---|---|---|---|---|---|---|---|---|
CNVs with full penetrance | |||||||||
1q24.3(172050936-172181677)x1 | Deletion | Maternal | LP | 0.9 | 1 | Yes | Intrauterine growth restriction | F | - |
Xq26.2(132717085-132924462)x1 | Deletion | De novo | P | 1 | 4 | Yes | Delay of acquisitions | F | 19 |
CNVs with incomplete penetrance | |||||||||
1q21.1(145818702-147824207)x3 | Duplication | De novo | P | 1 | 1 | Partially | Vaginal aplasia with unilateral renal agenesis and benign myoclonic epilepsy | F | 2 |
4q31.23(148911418-149103259)x1 | Deletion | Maternal | LP | 0.9 | 1 | Partially | Intellectual disability with pseudohypoaldosteronism | F | 19 |
Xq27.1(139103383-139763381)x2~3 | Duplication-triplication | Maternal | LP | 0.9 | 2 | Yes | Acrania | F | - |
Xq27.1(139103383-139801281)x2 | Duplication | Maternal | LP | 0.9 | 1 | Yes | Spina bifida | F | - |
Neurodevelopmental predisposing factors | |||||||||
2p16.3(51172123-51314430)x1 | Deletion | Paternal | P | 1 | 1 | Yes | Speech and language delay in a family context | F | 10 |
2p16.3(51251498-51491417)x1 | Deletion | Paternal | P | 1 | 1 | Yes | Delayed acquisitions, behavioral disorders | M | 7 |
2q12.3q13(109320835-110427254)x1 | Deletion | Non-maternal | LP | 0.9 | 2 | Yes | Delay of acquisitions and autism traits | M | 13 |
15q11.2(22765628-23191062)x1 | Deletion | Maternal | P | 1 | 1 | Yes | Delay of acquisitions | F | 6 |
16p11.2(28615644-29042118)x3 | Duplication | Paternal | P | 1 | 2 | No | Malformations | M | 0 |
17q12(34817422-36243028)x3 | Duplication | Paternal | P | 1 | 1 | No | Ice pick feet | F | - |