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NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter) AND Short stature, oligodontia, dysmorphic facies, and motor delay

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 16, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001328381.1

Allele description [Variation Report for NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter)]

NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter)

Genes:
LOC129931343:ATAC-STARR-seq lymphoblastoid active region 1622 [Gene]
POLR3GL:RNA polymerase III subunit GL [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.1
Genomic location:
Preferred name:
NM_032305.3(POLR3GL):c.358C>T (p.Arg120Ter)
HGVS:
  • NC_000001.11:g.145977515C>T
  • NM_001330685.2:c.289C>T
  • NM_032305.3:c.358C>TMANE SELECT
  • NP_001317614.1:p.Arg97Ter
  • NP_115681.1:p.Arg120Ter
  • NC_000001.10:g.145457572G>A
  • NM_032305.2:c.358C>T
Protein change:
R120*; ARG120TER
Links:
OMIM: 617457.0003; dbSNP: rs1401599439
NCBI 1000 Genomes Browser:
rs1401599439
Molecular consequence:
  • NM_001330685.2:c.289C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032305.3:c.358C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Short stature, oligodontia, dysmorphic facies, and motor delay
Identifiers:
MONDO: MONDO:0030992; MedGen: C5543206; OMIM: 619234

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001519502OMIM
no assertion criteria provided
Pathogenic
(Mar 16, 2021) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM.

Eur J Hum Genet. 2020 Apr;28(4):461-468. doi: 10.1038/s41431-019-0539-6. Epub 2019 Nov 6.

PubMed [citation]
PMID:
31695177
PMCID:
PMC7080780

Details of each submission

From OMIM, SCV001519502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 3-year-old French-Canadian girl with short stature, oligodontia, dysmorphic facies, and motor delay (SOFM; 619234), who also exhibited some features of progeria, Beauregard-Lacroix et al. (2020) identified homozygosity for a c.358C-T transition (c.358C-T, NM_032305.2) in exon 5 of the POLR3GL gene, resulting in an arg120-to-ter (R120X) substitution. Her unaffected parents were both heterozygous for the mutation, which was present in heterozygosity in 3 individuals in the gnomAD database. Analysis by qRT-PCR of patient blood samples showed an 84% decrease in POLR3GL mRNA levels compared to controls, suggestive of nonsense-mediated decay.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024