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.3405C>T (p.Asp1135=)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA7724149

391039 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 11dec182-b70a-412f-82d0-d883eef100df

Approved on: 2021-05-06

Published on: 2021-05-06

HGVS expressions

NM_002693.2:c.3405C>T

NM_002693.2(POLG):c.3405C>T (p.Asp1135=)

NC_000015.10:g.89318618G>A

CM000677.2:g.89318618G>A

NC_000015.9:g.89861849G>A

CM000677.1:g.89861849G>A

NC_000015.8:g.87662853G>A

NG_008218.1:g.21178C>T

NG_011736.1:g.79656G>A

NG_008218.2:g.21178C>T

ENST00000268124.11:c.3405C>T

ENST00000530292.3:n.3006C>T

ENST00000635986.2:c.*475C>T

ENST00000636774.1:c.*1972C>T

ENST00000637238.1:n.2214C>T

ENST00000637264.1:n.2477C>T

ENST00000666746.1:n.2982C>T

ENST00000672071.1:n.3603C>T

ENST00000672695.1:n.582C>T

ENST00000672923.2:n.3405C>T

ENST00000268124.9:c.3405C>T

ENST00000442287.6:c.3405C>T

ENST00000530292.2:n.489C>T

ENST00000631044.2:c.*2829C>T

NM_001126131.1:c.3405C>T

NM_001126131.2:c.3405C>T

NM_002693.3:c.3405C>T

Uncertain Significance

PM2 BP7

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.3405 C>T (p.Asp1135=) variant in POLG is present in population databases at the following frequencies: ESP Allele Frequency: 0.00023 with 0 homozygotes (PM2). This is a silent variant and no change in amino acid (BP7). In summary, there is insufficient evidence to characterize this variant and therefore it remains a variant of uncertain significance for primary mitochondrial disease inherited in a autosomal recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: PM2, BP7

PM2

ESP Allele Frequency:0.00023 Rule < 0.05% 0 homozygotes

BP7

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

Curation History

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