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NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 13, 2019)
Last evaluated:
Feb 13, 2019
Accession:
VCV000805934.25
Variation ID:
805934
Description:
Haplotype
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NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]

Other names
IVS14, G-A, +22 (rs191875469) AND IVS25, T-C, -11
Functional consequence
-
Links
OMIM: 614258.0010
This haplotype includes the following variants
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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 Feb 13, 2019 RCV000755664.3
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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
(Feb 13, 2019)
no assertion criteria provided
Method: literature only
WIEDEMANN-RAUTENSTRAUCH SYNDROME
Allele origin: germline
OMIM
Accession: SCV000883063.32
Submitted: (Feb 13, 2019)
Evidence details
Publications
PubMed (6)

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
POLR3A-related spastic ataxia: new mutations and a look into the phenotype. Infante J Journal of neurology 2020 PMID: 31637490
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Rydning SL Brain : a journal of neurology 2019 PMID: 30847471
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Wambach JA American journal of human genetics 2018 PMID: 30414627
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome. Paolacci S Journal of medical genetics 2018 PMID: 30323018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Travaglini L Neurogenetics 2018 PMID: 29691679
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Minnerop M Brain : a journal of neurology 2017 PMID: 28459997
Wiedemann-Rautenstrauch syndrome: A phenotype analysis. Paolacci S American journal of medical genetics. Part A 2017 PMID: 28447407
Diffuse hypomyelination is not obligate for POLR3-related disorders. La Piana R Neurology 2016 PMID: 27029625
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Garg A American journal of medical genetics. Part A 2015 PMID: 25898808
A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. Akawi N Birth defects research. Part A, Clinical and molecular teratology 2013 PMID: 23696134
Progeria: a cell culture study and clinical report of familial incidence. Rautenstrauch T European journal of pediatrics 1977 PMID: 319005

Record last updated Oct 08, 2021