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NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jul 22, 2021)
Last evaluated:
May 11, 2017
Accession:
VCV000041249.2
Variation ID:
41249
Description:
single nucleotide variant
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NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)

Allele ID
49673
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 77980159 (GRCh38) GRCh38 UCSC
10: 79739917 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79739917G>A
NC_000010.11:g.77980159G>A
NM_007055.4:c.4006C>T MANE Select NP_008986.2:p.Gln1336Ter nonsense
NG_029648.1:g.54382C>T
Protein change
Q1336*
Other names
-
Canonical SPDI
NC_000010.11:77980158:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA344261
dbSNP: rs267608675
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided May 11, 2017 RCV000034149.3
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 11, 2017)
no assertion criteria provided
Method: literature only
Hypomyelinating leukodystrophy 7
Allele origin: germline
GeneReviews
Accession: SCV000058084.3
Submitted: (Jul 22, 2021)
Evidence details
Publications
PubMed (2)
BookShelf: NBK99167

Functional evidence

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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

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Title Author Journal Year Link
POLR3-Related Leukodystrophy Bernard G - 2017 PMID: 22855961
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Bernard G American journal of human genetics 2011 PMID: 21855841

Text-mined citations for rs267608675...

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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 24, 2021