Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_007055.4(POLR3A):c.1740dup (p.Val581fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 22, 2021)
Last evaluated:
Jun 21, 2016
Accession:
VCV000280111.3
Variation ID:
280111
Description:
1bp duplication
Help

NM_007055.4(POLR3A):c.1740dup (p.Val581fs)

Allele ID
264563
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 78009893-78009894 (GRCh38) GRCh38 UCSC
10: 79769651-79769652 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79769654dup
NC_000010.11:g.78009896dup
NM_007055.4:c.1740dup MANE Select NP_008986.2:p.Val581fs frameshift
... more HGVS
Protein change
V581fs
Other names
-
Canonical SPDI
NC_000010.11:78009893:TTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10603222
dbSNP: rs781745727
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 21, 2016 RCV000292592.1
Pathogenic 1 no assertion criteria provided May 11, 2017 RCV001541986.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLR3A - - GRCh38
GRCh37
424 440

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 21, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329967.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1740dupA pathogenic variant in the POLR3A gene has been reported previously in association with hypomyelinating leukodystrophy, in an affected individual who was heterozygous for … (more)
Pathogenic
(May 11, 2017)
no assertion criteria provided
Method: literature only
Hypomyelinating leukodystrophy 7
Allele origin: germline
GeneReviews
Accession: SCV001760621.1
Submitted: (Jul 22, 2021)
Evidence details
Publications
PubMed (2)
BookShelf: NBK99167

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
POLR3-Related Leukodystrophy Bernard G - 2017 PMID: 22855961
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Wolf NI Neurology 2014 PMID: 25339210

Text-mined citations for rs781745727...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 26, 2021