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.1984G>A (p.Glu662Lys)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA285511

21310 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: d9dc87a2-4f6a-46dc-aaec-ca5c8f713348

Approved on: 2021-05-07

Published on: 2021-05-07

HGVS expressions

NM_002693.2:c.1984G>A

NM_002693.2(POLG):c.1984G>A (p.Glu662Lys)

ENST00000268124.11:c.1984G>A

ENST00000530292.3:n.1585G>A

ENST00000635986.2:c.1984G>A

ENST00000636774.1:c.*551G>A

ENST00000637238.1:n.681G>A

ENST00000637264.1:n.1056G>A

ENST00000666746.1:n.1561G>A

ENST00000670281.1:n.304G>A

ENST00000672071.1:n.2182G>A

ENST00000672923.2:n.2087G>A

ENST00000268124.9:c.1984G>A

ENST00000442287.6:c.1984G>A

ENST00000526314.2:n.366G>A

ENST00000526398.1:n.139-6G>A

ENST00000526573.1:n.70G>A

ENST00000532584.5:n.186G>A

ENST00000533857.1:n.99G>A

ENST00000631044.2:c.*1367G>A

NM_001126131.1:c.1984G>A

NM_001126131.2:c.1984G>A

NM_002693.3:c.1984G>A

NC_000015.10:g.89324193C>T

CM000677.2:g.89324193C>T

NC_000015.9:g.89867424C>T

CM000677.1:g.89867424C>T

NC_000015.8:g.87668428C>T

NG_008218.1:g.15603G>A

NG_008218.2:g.15603G>A

Benign

BA1 BS2

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.1984G>A (p.Glu662Lys) variant in POLG has been reported with an allele frequency in the population databases: 0.9 % in gnomAD and in the Latino population at 7% (BA1). It is also seen in the homozygous state in 112 individuals in gnomAD and 42 in ExAC (BS2). In summary, this variant meets criteria to be classified as benign for primary mitochondrial disease inherited in a recessive manner. ntDNA Mitochondrial ACMG-AMP Criteria for POLG applied: BA1 & BS2.

BA1

Variant seen in 7% in Latino population and 0.9% in gnomAD

BS2

112 homozygotes in gnomAD 42 homozygotes in ExAC

BP4

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

Curation History

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