NM_000533.5(PLP1):c.584C>A (p.Ala195Asp) AND Pelizaeus-Merzbacher disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2024
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:: RCV004691708.1

Allele description [Variation Report for NM_000533.5(PLP1):c.584C>A (p.Ala195Asp)]

NM_000533.5(PLP1):c.584C>A (p.Ala195Asp)

Genes:

RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.2

Genomic location:

Preferred name:

NM_000533.5(PLP1):c.584C>A (p.Ala195Asp)

HGVS:

NC_000023.11:g.103787928C>A
NG_008863.2:g.16418C>A
NG_016452.2:g.49355G>T
NM_000533.5:c.584C>AMANE SELECT
NM_001128834.3:c.584C>A
NM_001305004.1:c.419C>A
NM_199478.3:c.479C>A
NP_000524.3:p.Ala195Asp
NP_001122306.1:p.Ala195Asp
NP_001291933.1:p.Ala140Asp
NP_955772.1:p.Ala160Asp
NC_000023.10:g.103042857C>A

Protein change:

A140D

Molecular consequence:

NM_000533.5:c.584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128834.3:c.584C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001305004.1:c.419C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_199478.3:c.479C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Pelizaeus-Merzbacher disease
Synonyms:: LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010714; MedGen: C0205711; Orphanet: 702; OMIM: 312080; Human Phenotype Ontology: HP:0003269

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005187344	Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 13, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005187344

Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 13, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	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

Details of each submission

From Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV005187344.1

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

Description

The variant was detected in an affected male. Family history was compatible with X-linked inheritance. No further family members were availble for segregation analyses. The variant is not present in large population databases. We classified the variant as being of uncertain clinical significance.

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

Last Updated: Aug 25, 2024

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