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NM_000533.5(PLP1):c.517C>A (p.Pro173Thr) AND PLP1-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 28, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003909240.2

Allele description [Variation Report for NM_000533.5(PLP1):c.517C>A (p.Pro173Thr)]

NM_000533.5(PLP1):c.517C>A (p.Pro173Thr)

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.517C>A (p.Pro173Thr)
HGVS:
  • NC_000023.11:g.103787861C>A
  • NG_008863.2:g.16351C>A
  • NG_016452.2:g.49422G>T
  • NM_000533.5:c.517C>AMANE SELECT
  • NM_001128834.3:c.517C>A
  • NM_001305004.1:c.352C>A
  • NM_199478.3:c.412C>A
  • NP_000524.3:p.Pro173Thr
  • NP_001122306.1:p.Pro173Thr
  • NP_001291933.1:p.Pro118Thr
  • NP_955772.1:p.Pro138Thr
  • NC_000023.10:g.103042790C>A
  • NM_000533.4:c.517C>A
Protein change:
P118T
Molecular consequence:
  • NM_000533.5:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128834.3:c.517C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001305004.1:c.352C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199478.3:c.412C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PLP1-related disorder
Synonyms:
PLP1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004725379PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Dec 28, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004725379.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The PLP1 c.517C>A variant is predicted to result in the amino acid substitution p.Pro173Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, a different substitution at the same codon, defined as c.517C>T (p.Pro173Ser), has been reported in individuals with Pelizaeus-Merzbacher disease; and the functional studies by Xie et al. suggested that this variant resulted in protein accumulation in endoplasmic reticulum (ER) (Hubner et al. 2005. PubMed ID: 15712223; Duan et al. 2022. PubMed ID: 35346287; Xie et al. 2015. PubMed ID: 25491635). At this time, the clinical significance of the p.Pro173Thr variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 13, 2024