NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) AND Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Dec 6, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001330345.4

Allele description [Variation Report for NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)]

NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)

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.2350G>A (p.Gly784Ser)

Other names:

NM_007055.4(POLR3A):c.2350G>A; p.Gly784Ser

HGVS:

NC_000010.11:g.78002206C>T
NG_029648.1:g.32335G>A
NM_007055.4:c.2350G>AMANE SELECT
NP_008986.2:p.Gly784Ser
NC_000010.10:g.79761964C>T
NC_000010.10:g.79761964C>T
NM_007055.3:c.2350G>A

Protein change:

G784S

Links:

dbSNP: rs771786550

NCBI 1000 Genomes Browser:

rs771786550

Molecular consequence:

NM_007055.4:c.2350G>A - 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
SCV001521994	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Dec 6, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001760634	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

SCV001521994

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Dec 6, 2019)

unknown

clinical testing

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

SCV001760634

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
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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

See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV001521994.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

From GeneReviews, SCV001760634.2

#	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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