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.*420A>G

CA1139664131

885824 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Link to MONDO

UUID: c012fe4a-21d2-4da6-a835-a49dcfaef186

HGVS expressions

NM_002693.3:c.*420A>G

NM_002693.3(POLG):c.*420A>G

NC_000015.10:g.89316331T>C

CM000677.2:g.89316331T>C

NC_000015.9:g.89859562T>C

CM000677.1:g.89859562T>C

NC_000015.8:g.87660566T>C

NG_008218.1:g.23465A>G

NG_011736.1:g.77369T>C

NG_008218.2:g.23465A>G

ENST00000268124.11:c.*420A>G

ENST00000310775.12:c.3925-66T>C

ENST00000530292.3:n.3840A>G

ENST00000635831.1:n.73+375A>G

ENST00000637264.1:n.3152A>G

ENST00000672695.1:n.1919A>G

ENST00000674831.1:c.4057-66T>C

ENST00000675352.1:n.3130-66T>C

ENST00000676003.1:c.3883-66T>C

ENST00000676110.1:n.3506-66T>C

ENST00000268124.9:c.*420A>G

ENST00000300027.12:c.3745-66T>C

ENST00000310775.11:c.3925-66T>C

ENST00000442287.6:c.*420A>G

ENST00000447611.6:c.*269-66T>C

ENST00000530292.2:n.1323A>G

ENST00000561894.1:n.3221-66T>C

ENST00000566615.1:n.508-66T>C

ENST00000566895.5:n.3932-66T>C

ENST00000631044.2:c.*3564A>G

NM_001113378.1:c.3925-66T>C

NM_001126131.1:c.*420A>G

NM_002693.2:c.*420A>G

NM_018193.2:c.3745-66T>C

NM_001113378.2:c.3925-66T>C

NM_001126131.2:c.*420A>G

NM_001376910.1:c.3646-66T>C

NM_001376911.1:c.3925-66T>C

NM_018193.3:c.3745-66T>C

Uncertain Significance

PM2

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.*420A>G variant in POLG was absent from databases (PM2). Given the limited data no computational score available. There were no cases 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 ACMG/AMP criteria for POLG applied: PM2

PM2

Not reported in any databases

Approved on: 2021-05-06

Published on: 2021-05-06

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