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NM_007055.3(POLR3A):c.*18C>T

Variation ID: Help
549564
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Oct 1, 2018
Number of submission(s):
3
Condition(s):
Neonatal pseudo-hydrocephalic progeroid syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_007055.3(POLR3A):c.*18C>T

Allele ID:
540040
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.3
Genomic location:
  • Chr10: 77977460 (on Assembly GRCh38)
  • Chr10: 79737218 (on Assembly GRCh37)
HGVS:
  • NG_029648.1:g.57081C>T
  • NM_007055.3:c.*18C>T
  • NC_000010.11:g.77977460G>A (GRCh38)
  • NC_000010.10:g.79737218G>A (GRCh37)
Links:
OMIM: 614258.0014

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Apr 1, 2018)
criteria provided, single submitter
researchgermline
    Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's HospitalSCV000786635.1
    Likely pathogenic
    (Oct 1, 2018)
    criteria provided, single submitter
    researchinheritedCole/Wambach Lab,Washington University in St. LouisSCV000886481.1
    Pathogenic
    (Feb 13, 2019)
    no assertion criteria providedliterature onlygermlineOMIMSCV000883067.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germline, inheritednot providednot provided
    Cole/Wambach Lab,Washington University in St. Louisnot provided1inheritednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospitalnot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jun 9, 2019

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