NM_007055.4(POLR3A):c.2471A>C (p.His824Pro) AND Leukodystrophy, hypomyelinating, 4

Clinical significance:Likely pathogenic (Last evaluated: Oct 29, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000722140.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.2471A>C (p.His824Pro)]

NM_007055.4(POLR3A):c.2471A>C (p.His824Pro)

Gene:
POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.3
Genomic location:
Preferred name:
NM_007055.4(POLR3A):c.2471A>C (p.His824Pro)
HGVS:
  • NC_000010.11:g.78000983T>G
  • NG_029648.1:g.33558A>C
  • NM_007055.4:c.2471A>C
  • NP_008986.2:p.His824Pro
  • NC_000010.10:g.79760741T>G
  • NM_007055.3:c.2471A>C
Protein change:
H824P
Molecular consequence:
  • NM_007055.4:c.2471A>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
probably has functional consequence

Condition(s)

Name:
Leukodystrophy, hypomyelinating, 4 (HLD4)
Synonyms:
MITCHAP60 DISEASE; MITOCHONDRIAL HSP60 CHAPERONOPATHY
Identifiers:
MedGen: C2677109; Orphanet: 280270; Orphanet: 280288; OMIM: 612233

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000845210Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejiacriteria provided, single submitter
Likely pathogenic
(Oct 29, 2018)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA.

PLoS One. 2018;13(2):e0191228. doi: 10.1371/journal.pone.0191228.

PubMed [citation]
PMID:
29389947
PMCID:
PMC5794057

Details of each submission

From Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia, SCV000845210.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (1)

Description

The variant NM_007055.3:c.2471A>C in the POLR3A gene has not been previously reported in public databases. This variant was identified in a patient diagnosed with 4H leukodystrophy, an alteration typically characterized by the triad of hypomyelination, hypodontia, and hypogonadotropic hypogonadism caused by mutations in POLR3A or POLR3B. We consider that this variant is probably pathogenic because it is found in a coding and critical region for the correct expression of this gene; besides that other variants have been reported in nearby regions of the gene in patients with 4H leukodystrophy (Bernard et al., 2017).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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