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NM_007055.4(POLR3A):c.*18C>T

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 13, 2019)
Last evaluated:
Oct 1, 2018
Accession:
VCV000549564.1
Variation ID:
549564
Description:
single nucleotide variant
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NM_007055.4(POLR3A):c.*18C>T

Allele ID
540040
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q22.3
Genomic location
10: 77977460 (GRCh38) GRCh38 UCSC
10: 79737218 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.79737218G>A
NC_000010.11:g.77977460G>A
NM_007055.4:c.*18C>T 3 prime UTR
NG_029648.1:g.57081C>T
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
OMIM: 614258.0014
dbSNP: rs1248039821
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Oct 1, 2018 RCV000754386.2
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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
228 243

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 01, 2018)
criteria provided, single submitter
Method: research
Neonatal pseudo-hydrocephalic progeroid syndrome
Allele origin: germline
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital
Accession: SCV000786635.1
Submitted: (Apr 30, 2018)
Evidence details
Likely pathogenic
(Oct 01, 2018)
criteria provided, single submitter
Method: research
Neonatal pseudo-hydrocephalic progeroid syndrome
Allele origin: inherited
Cole/Wambach Lab,Washington University in St. Louis
Accession: SCV000886481.1
Submitted: (Nov 21, 2018)
Comment:
in trans with c.3G>T
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 13, 2019)
no assertion criteria provided
Method: literature only
WIEDEMANN-RAUTENSTRAUCH SYNDROME
Allele origin: germline
OMIM
Accession: SCV000883067.1
Submitted: (Feb 13, 2019)
Evidence details
Publications
PubMed (4)

Citations for this variant

Title Author Journal Year Link
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
Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients. Morales LC American journal of medical genetics. Part A 2009 PMID: 19938095
Follow-up study of Wiedemann-Rautenstrauch syndrome: long-term survival and comparison with Rautenstrauch's patient "G". Arboleda H Birth defects research. Part A, Clinical and molecular teratology 2005 PMID: 16007586

Record last updated Jan 20, 2020