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.3451C>T (p.Leu1151=)

CA7724139

378418 (ClinVar)

Gene: POLG
Condition: mitochondrial disease
Inheritance Mode: Autosomal recessive inheritance
Link to MONDO
UUID: c5888190-3f36-4b11-a216-513ad92355c6
Approved on: 2021-05-06
Published on: 2021-05-06

HGVS expressions

NM_002693.2:c.3451C>T
NM_002693.2(POLG):c.3451C>T (p.Leu1151=)
ENST00000268124.11:c.3451C>T
ENST00000530292.3:n.3052C>T
ENST00000635986.2:c.*521C>T
ENST00000636774.1:c.*2018C>T
ENST00000637238.1:n.2260C>T
ENST00000637264.1:n.2523C>T
ENST00000666746.1:n.3028C>T
ENST00000672071.1:n.3649C>T
ENST00000672695.1:n.628C>T
ENST00000672923.2:n.3451C>T
ENST00000268124.9:c.3451C>T
ENST00000442287.6:c.3451C>T
ENST00000530292.2:n.535C>T
ENST00000631044.2:c.*2875C>T
NM_001126131.1:c.3451C>T
NM_001126131.2:c.3451C>T
NM_002693.3:c.3451C>T
NC_000015.10:g.89318572G>A
CM000677.2:g.89318572G>A
NC_000015.9:g.89861803G>A
CM000677.1:g.89861803G>A
NC_000015.8:g.87662807G>A
NG_008218.1:g.21224C>T
NG_011736.1:g.79610G>A
NG_008218.2:g.21224C>T

Uncertain Significance

Met criteria codes 1
BP7
Not Met criteria codes 3
BS1 BA1 PM2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Mitochondrial Diseases VCEP
The c.3451C>T (p.L1151L) variant in POLG is present in population databases ExAC at 0.11% frequency and not observed in homozygotes (no criteria is met). There is limited computational predictions and the tool Revel unavailable given limited data. This variant is a coding synonymous change (BP7). 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: BP7
Met criteria codes
BP7
synonymous variant
Not Met criteria codes
BS1
ExAC 0.11%
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
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