Table 1 New variants of interest retrospectively identified in our cohort by variant recurrence
Variant (hg19) | Variant (RefSeq) | Gene | # Probands local cohort | Denovo-db variant | # Probands denovo-db | ClinVar | Inheritance | OMIM | OMIM disease relevant to the patient’s presentation | OMIM entry creation | Clinical significance |
|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:g.1737942 A>G | NM_002074.4:c.239 T>C p.(Ile80Thr) | GNB1 | 1 | Same | 1 | Pathogenic | De novo | 616973 | Mental retardation, autosomal dominant, 42 | June 2016 | Pathogenic |
chr1:g.26784371 G>A | NM_024887.3:c.632 G>A p.(Arg211Gln) | DHDDS | 1 | Same | 1 | - | De novo | 617836 | Developmental delay and seizures with or without movement abnormalities | January 2018 | Pathogenic |
chr5:g.160758065T>C | NM_021911.2:c.902A>G p.(Tyr301Cys) | GABRB2 | 1 | Same | 1 | Likely pathogenic | De novo | 617829 | Epileptic encephalopathy, infantile or early childhood, 2 | January 2018 | Pathogenic |
chr17:g.57754422 C>T | NM_004859.3:c.2669 C>T p.(Pro890Leu) | CLTC | 1 | Same | 1 | - | De novo | 617854 | Mental retardation, autosomal dominant 56 | January 2018 | Pathogenic |
chr19:g.13342664 C>T | NM_001127221.1:c.5263 G>A p.(Gly1755Arg) | CACNA1A | 1 | Same | 1 | - | De novo | 617106 | Epileptic encephalopathy, early infantile, 42 | August 2016 | Pathogenic |
chr17:g.36895855 G>A | NM_007144.2:c.193 C>T p.(Pro65Ser) | PCGF2 | 1 | c.194 C>T (p.Pro65Leu) | 2 | - | De novo | - | - | - | Pathogenic |
chr7:g.100244260 C>G | NM_016188.4:c.1027 G>C p.(Gly343Arg) | ACTL6B | 1 | c.1027 G>A p.(Gly343Arg) | 3 | - | Autosomal dominant | - | - | - | Research variant |
chr15:g.68582073 G>A | NM_015322.4:c.377 G>A p.(Arg126Gln) | FEM1B | 1 | Same | 1 | - | De novo | - | - | - | Research variant |
chrX:g.24229365 C>T | NM_001178084.1:c.2290 C>T p.(Arg764Trp) | ZFX | 1 | Same | 1 | - | Hemizygous, inherited from asymptomatic mother | - | - | - | Research variant/VOUS |
chr3:g.50293695 G>A | NM_002070.3:c.536 G>A p.(Arg179His) | GNAI2 | 1 | c.535 C>T (p.Arg179Cys) | 1 | - | De novo | - | - | - | Research variant |
