Variant: NM_002693.2(POLG):c.3630dup (p.Gly1211fs)

CA341888

21315 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

UUID: e0bd9e67-4a95-4ebc-963f-1013b0be4c88

Approved on: 2021-05-06

Published on: 2021-05-06

HGVS expressions

NM_002693.2:c.3630dup
NM_002693.2:c.3630dupC
NM_002693.2(POLG):c.3630dup (p.Gly1211fs)
ENST00000268124.11:c.3630dup
ENST00000530292.3:n.3330dup
ENST00000635986.2:c.*700dup
ENST00000636774.1:c.*2234dup
ENST00000637238.1:n.2538dup
ENST00000637264.1:n.2642dup
ENST00000666746.1:n.3207dup
ENST00000672071.1:n.4832dup
ENST00000672695.1:n.1409dup
ENST00000672923.2:n.3630dup
ENST00000268124.9:c.3630dup
ENST00000442287.6:c.3630dup
ENST00000526671.1:n.440dup
ENST00000530292.2:n.813dup
ENST00000631044.2:c.*3054dup
NM_001126131.1:c.3630dup
NM_001126131.2:c.3630dup
NM_002693.3:c.3630dup
NC_000015.10:g.89317389dup
CM000677.2:g.89317389dup
NC_000015.9:g.89860620dup
CM000677.1:g.89860620dup
NC_000015.8:g.87661624dup
NG_008218.1:g.22407dup
NG_011736.1:g.78427dup
NG_008218.2:g.22407dup

Likely Pathogenic

• Met criteria codes: PM2 PVS1

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The c.3630dup (p.Gly1211ArgfsTer6) variant in POLG was not in any databases (PM2). This variant results in a frameshift causing a loss of function (PVS1). There are no publications of cases with this variant. In summary, this variant meets criteria to be classified as likely pathogenic for mitochondrial disease inherited in an autosomal recessive manner. ntDNA ACMG/AMP criteria for POLG applied: PVS1, PM2

Met criteria codes

• PM2: Absent from databases
• PVS1: Frameshift variant