Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)

CA248706

21312 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 7ab61a4c-7405-4783-9e9a-7d5720801142

HGVS expressions

NM_002693.3:c.3428A>G

NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)

ENST00000268124.11:c.3428A>G

ENST00000530292.3:n.3029A>G

ENST00000635986.2:c.*498A>G

ENST00000636774.1:c.*1995A>G

ENST00000637238.1:n.2237A>G

ENST00000637264.1:n.2500A>G

ENST00000666746.1:n.3005A>G

ENST00000672071.1:n.3626A>G

ENST00000672695.1:n.605A>G

ENST00000672923.2:n.3428A>G

ENST00000268124.9:c.3428A>G

ENST00000442287.6:c.3428A>G

ENST00000530292.2:n.512A>G

ENST00000631044.2:c.*2852A>G

NM_001126131.1:c.3428A>G

NM_002693.2:c.3428A>G

NM_001126131.2:c.3428A>G

NC_000015.10:g.89318595T>C

CM000677.2:g.89318595T>C

NC_000015.9:g.89861826T>C

CM000677.1:g.89861826T>C

NC_000015.8:g.87662830T>C

NG_008218.1:g.21201A>G

NG_011736.1:g.79633T>C

NG_008218.2:g.21201A>G

Benign

BA1 BS2

Evidence Links 0

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The c.3428 A>G (p.E1143G) variant in POLG has been reported 2.881 % in gnomAD (BA1). It is also seen in the homozygous state in 175 individuals in gnomAD and 65 in ExAC (BS2). In summary, this variant meets criteria to be classified as benign for primary mitochondrial disease inherited in a recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1 & BS2.

BA1

2.881% in gnomAD

BS2

175 homozygotes in gnomAD and 65 in ExaC

Approved on: 2021-05-06

Published on: 2021-05-06

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