Variant: NM_002693.3(POLG):c.*100G>A

CA274538167

886829 (ClinVar)

Gene: POLG

Condition: mitochondrial disease

Inheritance Mode: Autosomal recessive inheritance

UUID: b809422c-0ced-4291-bd6f-c39d65e76e3e

HGVS expressions

NM_002693.3:c.*100G>A
NM_002693.3(POLG):c.*100G>A
ENST00000268124.11:c.*100G>A
ENST00000310775.12:c.*192C>T
ENST00000530292.3:n.3520G>A
ENST00000635831.1:n.73+55G>A
ENST00000635986.2:c.*890G>A
ENST00000637238.1:n.2728G>A
ENST00000637264.1:n.2832G>A
ENST00000666746.1:n.3397G>A
ENST00000672071.1:n.5022G>A
ENST00000672695.1:n.1599G>A
ENST00000672923.2:n.3820G>A
ENST00000675352.1:n.3384C>T
ENST00000676003.1:c.*192C>T
ENST00000676110.1:n.3760C>T
ENST00000268124.9:c.*100G>A
ENST00000300027.12:c.*192C>T
ENST00000310775.11:c.*192C>T
ENST00000442287.6:c.*100G>A
ENST00000526671.1:n.630G>A
ENST00000530292.2:n.1003G>A
ENST00000566895.5:n.4186C>T
ENST00000631044.2:c.*3244G>A
NM_001113378.1:c.*192C>T
NM_001126131.1:c.*100G>A
NM_002693.2:c.*100G>A
NM_018193.2:c.*192C>T
NM_001113378.2:c.*192C>T
NM_001126131.2:c.*100G>A
NM_001376910.1:c.*192C>T
NM_001376911.1:c.*192C>T
NM_018193.3:c.*192C>T
NC_000015.10:g.89316651C>T
CM000677.2:g.89316651C>T
NC_000015.9:g.89859882C>T
CM000677.1:g.89859882C>T
NC_000015.8:g.87660886C>T
NG_008218.1:g.23145G>A
NG_011736.1:g.77689C>T
NG_008218.2:g.23145G>A

Uncertain Significance

• Met criteria codes: PM2

Expert Panel

Mitochondrial Diseases VCEP

Criteria Specification Information

Evidence submitted by expert panel

Mitochondrial Diseases VCEP

The c.*100G>A variant in POLG was see in gnomAD at 0.013% allele frequency and not present in any homozygotes (PM2). There are no cases reported in the literature. In summary, this variant meets criteria to be classified as a variant of uncertain significance for mitochondrial disease inherited in an autosomal recessive manner. ntDNA ACMG/AMP criteria for POLG applied: PM2

Met criteria codes

• PM2: gnomAD 0.013% allele frequency 0 homozygotes

Approved on: 2021-05-06

Published on: 2021-05-06