Table 3 Genotyping results of SURF1 patient-derived fibroblasts.

From: OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

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

  1. Results from whole genome sequencing (WGS). SNV single nucleotide variant.
  2. aClinical interpretation of genetic variants is based on the ANNOVAR gene annotation pipeline that uses ClinVar database as a primary reference.
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