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

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

CA241475

21318 (ClinVar)

Gene: POLG
Condition: mitochondrial disease
Inheritance Mode: Autosomal recessive inheritance
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

Met criteria codes 1
BS2
Not Met criteria codes 3
BS1 BP4 BA1

Evidence Links 0

Expert Panel

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.
Met criteria codes
BS2
1 homozygote
Not Met criteria codes
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
REVEL score 0.16
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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