NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile) AND Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001541984.2

Allele description [Variation Report for NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile)]

NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile)

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.1658C>T (p.Thr553Ile)

HGVS:

NC_000010.11:g.78009976G>A
NG_029648.1:g.24565C>T
NM_007055.4:c.1658C>TMANE SELECT
NP_008986.2:p.Thr553Ile
NC_000010.10:g.79769734G>A
NM_007055.3:c.1658C>T

Protein change:

T553I

Links:

dbSNP: rs1847450791

NCBI 1000 Genomes Browser:

rs1847450791

Molecular consequence:

NM_007055.4:c.1658C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
Synonyms:: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; LEUKOENCEPHALOPATHY, HYPOMYELINATING, WITH ATAXIA AND DELAYED DENTITION; ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011897; MedGen: C2676243; Orphanet: 137639; Orphanet: 447893; Orphanet: 447896; Orphanet: 77295; Orphanet: 88637; OMIM: 607694

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760619	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 25339210, 22855961

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760619

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group..

Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.

PubMed [citation]

PMID:: 25339210
PMCID:: PMC4248461

POLR3-Related Leukodystrophy.

Bernard G, Vanderver A.

2012 Aug 2 [updated 2017 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 22855961

Details of each submission

From GeneReviews, SCV001760619.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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