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NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 24, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000390750.5

Allele description [Variation Report for NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)]

NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)
HGVS:
  • NC_000001.11:g.161307304G>C
  • NG_008055.1:g.7669C>G
  • NM_000530.8:c.188C>GMANE SELECT
  • NM_001315491.2:c.188C>G
  • NP_000521.2:p.Ser63Cys
  • NP_001302420.1:p.Ser63Cys
  • LRG_256t1:c.188C>G
  • LRG_256:g.7669C>G
  • LRG_256p1:p.Ser63Cys
  • NC_000001.10:g.161277094G>C
  • NM_000530.6:c.188C>G
  • P25189:p.Ser63Cys
Protein change:
S63C; SER63CYS
Links:
UniProtKB: P25189#VAR_004508; OMIM: 159440.0004; dbSNP: rs121913585
NCBI 1000 Genomes Browser:
rs121913585
Molecular consequence:
  • NM_000530.8:c.188C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.188C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329683GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 17, 2021) 		germlineclinical testing

Citation Link,

SCV000614101Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Oct 24, 2022) 		unknownclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Two cases of congenital hypomyelination neuropathy.

Tachi N, Ishikawa Y, Minami R.

Brain Dev. 1984;6(6):560-5.

PubMed [citation]
PMID:
6099985

P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.

Fratta P, Saveri P, Zambroni D, Ferri C, Tinelli E, Messing A, D'Antonio M, Feltri ML, Wrabetz L.

Hum Mol Genet. 2011 Jun 1;20(11):2081-90. doi: 10.1093/hmg/ddr081. Epub 2011 Mar 1.

PubMed [citation]
PMID:
21363884
PMCID:
PMC3090187
See all PubMed Citations (9)

Details of each submission

From GeneDx, SCV000329683.8

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

Description

Published functional studies show that mice carrying the S63C variant develop neuropathy (Wrabetz et al., 2006); Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 7506095, 16495463, 26310628, 20461396, 27535533, 11935267, 6099985)

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

From Athena Diagnostics, SCV000614101.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This variant has been identified in at least one individual with Dejerine-Sottas disease and appears to occur de novo in one individual. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. See PMID: 11935267, 16495463. The variant is located in a region that is considered important for protein function and/or structure.

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

Last Updated: Sep 29, 2024