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.578G>A (p.Arg193Gln)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA241475

21318 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 32aa42c6-6e27-46ba-a061-ce5f93499fbc

Approved on: 2021-05-07

Published on: 2021-05-23

HGVS expressions

NM_002693.2:c.578G>A

NM_002693.2(POLG):c.578G>A (p.Arg193Gln)

NC_000015.10:g.89333177C>T

CM000677.2:g.89333177C>T

NC_000015.9:g.89876408C>T

CM000677.1:g.89876408C>T

NC_000015.8:g.87677412C>T

NG_008218.1:g.6619G>A

NG_008218.2:g.6619G>A

ENST00000268124.11:c.578G>A

ENST00000530292.3:n.179G>A

ENST00000635986.2:c.578G>A

ENST00000636774.1:c.578G>A

ENST00000650303.2:n.633G>A

ENST00000666746.1:n.235G>A

ENST00000672071.1:n.776G>A

ENST00000268124.9:c.578G>A

ENST00000442287.6:c.578G>A

ENST00000631044.2:c.578G>A

NM_001126131.1:c.578G>A

NM_001126131.2:c.578G>A

NM_002693.3:c.578G>A

Uncertain Significance

BS2

BA1 BS1 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.578G>A (p.Arg193Gln) variant in POLG has been reported with an allele frequency in the population at 0.2 % in African Americans in gnomAD. It is also seen in the homozygous state in 1 individual in gnomAD (BS2). This variant is not reported in the literature and no computational data is available. In summary, this variant meets criteria to be classified as uncertain significance for primary mitochondrial disease inherited in a recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BS2.

BS2

1 homozygote

BA1

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

BS1

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

BP4

REVEL score 0.16

Curation History

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