G1051R (p.Gly1051Arg) variant of POLG (DNA polymerase subunit gamma-1)
G1051R (p.Gly1051Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Progressive sclerosing poliodystrophy; Mitochondrial DN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G1051R (p.Gly1051Arg) variant details
- p.Gly1051Arg
- rs121918049
- ClinGen CA7724222
- ClinVar RCV000685758
- ClinVar RCV003352982
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Progressive sclerosing poliodystrophy; Mitochondrial DN
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Progressive sclerosing poliodystrophy;)
- EBI: Pathogenic (in SANDO)
- UniProt: Pathogenic (in SANDO)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. (PMID 14745080)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)