NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe) AND Hypomyelinating leukodystrophy 7

Clinical significance:Uncertain significance (Last evaluated: Jan 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001337042.1

Allele description [Variation Report for NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe)]

NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe)

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.1024G>T (p.Val342Phe)
HGVS:
  • NC_000010.11:g.78021884C>A
  • NG_029648.1:g.12657G>T
  • NM_007055.4:c.1024G>TMANE SELECT
  • NP_008986.2:p.Val342Phe
  • NC_000010.10:g.79781642C>A
  • NM_007055.3:c.1024G>T
Protein change:
V342F
Molecular consequence:
  • NM_007055.4:c.1024G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypomyelinating leukodystrophy 7 (HLD7)
Synonyms:
LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Dentoleukoencephalopathy; Dentoleukoencephalopathy, autosomal recessive; 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001530602Baylor Geneticscriteria provided, single submitter
Uncertain significance
(Jan 16, 2018)
paternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical 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

Details of each submission

From Baylor Genetics, SCV001530602.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 7, 2021

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