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]

Variant: NM_002693.2(POLG):c.3293A>C (p.Asn1098Thr)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA231406

129995 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 90f2d239-737d-4f99-89c0-28d14ee8af82

Approved on: 2021-05-07

Published on: 2021-05-07

HGVS expressions

NM_002693.2:c.3293A>C

NM_002693.2(POLG):c.3293A>C (p.Asn1098Thr)

NC_000015.10:g.89318730T>G

CM000677.2:g.89318730T>G

NC_000015.9:g.89861961T>G

CM000677.1:g.89861961T>G

NC_000015.8:g.87662965T>G

NG_008218.1:g.21066A>C

NG_011736.1:g.79768T>G

NG_008218.2:g.21066A>C

ENST00000268124.11:c.3293A>C

ENST00000530292.3:n.2894A>C

ENST00000635986.2:c.*363A>C

ENST00000636774.1:c.*1860A>C

ENST00000637238.1:n.2102A>C

ENST00000637264.1:n.2365A>C

ENST00000666746.1:n.2870A>C

ENST00000672071.1:n.3491A>C

ENST00000672695.1:n.470A>C

ENST00000672923.2:n.3293A>C

ENST00000268124.9:c.3293A>C

ENST00000442287.6:c.3293A>C

ENST00000530292.2:n.377A>C

ENST00000631044.2:c.*2717A>C

NM_001126131.1:c.3293A>C

NM_001126131.2:c.3293A>C

NM_002693.3:c.3293A>C

Uncertain Significance

PP3 PM2

BS2 BP4

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.3293 A>C (p.Asn1098Thr) variant in POLG is absent in population databases ExAC, gnomAD, 1000 Genomes, and ESP (PM2). Computational prediction tool Revel score is 0.953 (PP3). This variant has not been reported 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, PP3.

PP3

Revel 0.953

PM2

Absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP

BS2

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BP4

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

Curation History

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