Table 4 The pathogenic variants detected exclusively by EVIDENCE.
Patient ID | Gender/age | Clinical phenotype | Gene | HGVS nomenclature | Zygosity | ACMG/AMP 2015 | ||
|---|---|---|---|---|---|---|---|---|
Nucleotide change | Protein change | Classification | Criteria | |||||
SB308–611 | M/7m | Hearing loss, heart mur-mur | PTPN11 | NM_002834.3:c.922A>G | NP_002825.3:p.Asn308Asp | Heterozygote | Pathogenic | PS2, PM1, PM2, PM5, PP1, PP2, PP3, PP5 |
SH271–631 | M/10m | Hearing loss, pulmonary stenosis | PTPN11 | NM_002834.3:c.922A>G | NP_002825.3:p.Asn308Asp | Heterozygote | Pathogenic | PS2, PM1, PM2, PM5, PP1, PP2, PP3, PP5 |
SH250–590 | F/0 | Profound hearing loss | PTPN11 | NM_002834.3:c.836A>G | NP_002825.3:p.Tyr279Cys | Heterozygote | Pathogenic | PS2, PM1, PM2, PM5, PM6, PP2, PP3, PP5 |
SB542–1014 | M/8m | Mixed hearing loss, mandibulofacial anomaly | EFTUD2 | NM_001258353.1:c.271+1G>A | NP_001245282.1:p.Glu91Aspfs*24 | Heterozygote | Pathogenic | PSV1, PS2,PS3, PM2, PP4 |
