Table 2 Characteristics of the variants detected with AutScore.r ≥ 0.335 (N = 67).
Functional Consequences | Frequency (%) |
|---|---|
Frameshift Insertion/Deletion | 17 (25.4%) |
Splice Acceptor/Donor | 5 (7.46%) |
Stop Gained/Lost | 13 (19.4%) |
Missense | 29 (43.3%) |
Other | 3 (4.48%) |
Gene Type | |
SFARI 1 | 51 (76.1%) |
SFARI 2 and 3 | 11 (16.4%) |
Any SFARI | 62 (92.5%) |
Novel Genes | 5 (7.46%) |
Inheritance Pattern | |
Denovo | 49 (73.1%) |
X-linked | 8 (11.9%) |
Autosomal Recessive | 10 (14.9%) |
Variant Type | |
Pathogenic (P) | 35 (52.2%) |
Likely Pathogenic (LP) | 18 (26.9%) |
VUS/LGD | 14 (20.9%) |
Clinical Assessment | |
Likely ASD Candidates | 53 (79.1%) |
Possibly ASD Candidates | 10 (14.9%) |
Unlikely ASD Candidates | 4 (5.97%) |
