Variant: NM_002693.2(POLG):c.3483-14T>C

CA292853

138764 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

UUID: cef21050-7177-4d8f-a726-95d4a343b997

Approved on: 2021-05-06

Published on: 2021-05-06

HGVS expressions

NM_002693.2:c.3483-14T>C
NM_002693.2(POLG):c.3483-14T>C
ENST00000268124.11:c.3483-14T>C
ENST00000530292.3:n.3183-14T>C
ENST00000635986.2:c.*553-14T>C
ENST00000636774.1:c.*2087-14T>C
ENST00000637042.1:n.72-79T>C
ENST00000637238.1:n.2391-14T>C
ENST00000637264.1:n.2555-74T>C
ENST00000666746.1:n.3060-14T>C
ENST00000672071.1:n.4671T>C
ENST00000672695.1:n.1262-14T>C
ENST00000672923.2:n.3483-14T>C
ENST00000268124.9:c.3483-14T>C
ENST00000442287.6:c.3483-14T>C
ENST00000526671.1:n.279T>C
ENST00000530292.2:n.666-14T>C
ENST00000631044.2:c.*2907-14T>C
NM_001126131.1:c.3483-14T>C
NM_001126131.2:c.3483-14T>C
NM_002693.3:c.3483-14T>C
NC_000015.10:g.89317550A>G
CM000677.2:g.89317550A>G
NC_000015.9:g.89860781A>G
CM000677.1:g.89860781A>G
NC_000015.8:g.87661785A>G
NG_008218.1:g.22246T>C
NG_011736.1:g.78588A>G
NG_008218.2:g.22246T>C

Uncertain Significance

• Met criteria codes: PM2

• Not Met criteria codes: BS2

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The c.3482-14 T>C variant in POLG is observed in population databases ExAC at 0.00007% and gnomAD 0.0005% (PM2; observed < 0.05% frequency). Computational prediction tool Revel not available given intronic variant. This variant has not been seen in homozygotes or published in the literature. In summary, there is not sufficient evidence to characterize this variant as pathogenic or benign, therefore it is characterized as a variant of uncertain significance for primary mitochondrial disease inherited in a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: PM2.

Met criteria codes

• PM2: Rule < 0.05% gnomAD 0.00050 ExAC 0.00007

Not Met criteria codes

• BS2: No homozygotes