Table 3.
Genotyping results of SURF1 patient-derived fibroblasts.
| Cell line | Surf1 mutation | Exonic function | dbSNP id | Clinical significancea |
|---|---|---|---|---|
| Patient 1 | c.518_519del (p.S173Cfs*7) c.845_846del (p.S282Cfs*7) | Frameshift deletion | rs782316919 | Pathogenic | Pathogenic |
| Patient 2 | c.247_248insCTGC (p.R83Pfs*7) c.574_575insCTGC (p.R192Pfs*7) | Frameshift insertion | rs782289759 | NA |
| c.C246G (p.T82T) C573G (p.T191T) | Synonymous SNV | rs28715079 | Benign | Likely Benign | |
| c.313_321del (p.L105_A107del) | Nonframeshift deletion | rs759270179 | NA | |
| c.311_312insA (p.L105Sfs*11) | Frameshift insertion | rs764928653 | NA | |
| c.T280C (p.L94L) | Synonymous SNV | rs28615629 | Benign | Likely Benign | |
| Patient 3 | c.C246G (p.T82T) c.C573G (p.T191T) | Synonymous SNV | rs28715079 | Benign | Likely Benign |
| Homozygous c.313_321del (p.L105_A107del) | Nonframeshift deletion | rs759270179 | NA | |
| c.T280C (p.L94L) | Synonymous SNV | rs28615629 | Benign | Likely Benign |
Results from whole genome sequencing (WGS). SNV single nucleotide variant.
aClinical interpretation of genetic variants is based on the ANNOVAR gene annotation pipeline that uses ClinVar database as a primary reference.