Evidence Repository
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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  • See Evidence submitted by expert panel for details.

Variant: NM_002693.2(POLG):c.*122G>A

CA10647460

317304 (ClinVar)

Gene: POLG
Condition: mitochondrial disease
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: 18eb9540-47f4-41ce-9dd4-b53667b62627
Approved on: 2021-05-07
Published on: 2021-05-07

HGVS expressions

NM_002693.2:c.*122G>A
NM_002693.2(POLG):c.*122G>A
ENST00000268124.11:c.*122G>A
ENST00000310775.12:c.*170C>T
ENST00000530292.3:n.3542G>A
ENST00000635831.1:n.73+77G>A
ENST00000635986.2:c.*912G>A
ENST00000637238.1:n.2750G>A
ENST00000637264.1:n.2854G>A
ENST00000666746.1:n.3419G>A
ENST00000672071.1:n.5044G>A
ENST00000672695.1:n.1621G>A
ENST00000672923.2:n.3842G>A
ENST00000675352.1:n.3362C>T
ENST00000676003.1:c.*170C>T
ENST00000676110.1:n.3738C>T
ENST00000268124.9:c.*122G>A
ENST00000300027.12:c.*170C>T
ENST00000310775.11:c.*170C>T
ENST00000442287.6:c.*122G>A
ENST00000526671.1:n.652G>A
ENST00000530292.2:n.1025G>A
ENST00000566895.5:n.4164C>T
ENST00000631044.2:c.*3266G>A
NM_001113378.1:c.*170C>T
NM_001126131.1:c.*122G>A
NM_018193.2:c.*170C>T
NM_001113378.2:c.*170C>T
NM_001126131.2:c.*122G>A
NM_001376910.1:c.*170C>T
NM_001376911.1:c.*170C>T
NM_018193.3:c.*170C>T
NM_002693.3:c.*122G>A
NC_000015.10:g.89316629C>T
CM000677.2:g.89316629C>T
NC_000015.9:g.89859860C>T
CM000677.1:g.89859860C>T
NC_000015.8:g.87660864C>T
NG_008218.1:g.23167G>A
NG_011736.1:g.77667C>T
NG_008218.2:g.23167G>A

Uncertain Significance

Met criteria codes 2
BP5 PM2
Not Met criteria codes 4
BS2 BS4 BP4 PS4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The c.122G>A (p.Arg42) variant in POLG has been observed in population database gnomAD at 0.03% (PM2). This variant has been observed in 1 casewith another molecular cause a large scale mitochondrial DNA deletion with clinical features of Kearns Sayre Syndrome (BP5; PMID: 21378381). 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, BP5.
Met criteria codes
BP5
PMID: 21378381, patient also had common large deletion for KSS
PM2
0.00032
Not Met criteria codes
BS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
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
PS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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