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NM_000530.8(MPZ):c.410G>T (p.Gly137Val) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 30, 2022
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:
RCV002473137.2

Allele description [Variation Report for NM_000530.8(MPZ):c.410G>T (p.Gly137Val)]

NM_000530.8(MPZ):c.410G>T (p.Gly137Val)

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.410G>T (p.Gly137Val)
HGVS:
  • NC_000001.11:g.161306746C>A
  • NG_008055.1:g.8227G>T
  • NM_000530.8:c.410G>TMANE SELECT
  • NM_001315491.2:c.410G>T
  • NP_000521.2:p.Gly137Val
  • NP_001302420.1:p.Gly137Val
  • LRG_256t1:c.410G>T
  • LRG_256:g.8227G>T
  • NC_000001.10:g.161276536C>A
  • NM_000530.6:c.410G>T
Protein change:
G137V
Links:
dbSNP: rs863225025
NCBI 1000 Genomes Browser:
rs863225025
Molecular consequence:
  • NM_000530.8:c.410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.410G>T - 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
SCV002771874Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely pathogenic
(Aug 30, 2022) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.

Prada V, Capponi S, Ursino G, Alberti A, Callegari I, Passalacqua M, Marotta R, Mandich P, Bellone E, Schenone A, Grandis M.

Neuropathology. 2015 Jun;35(3):254-9. doi: 10.1111/neup.12179. Epub 2014 Nov 11.

PubMed [citation]
PMID:
25388615

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M, Wei L.

Sci Rep. 2016 Aug 16;6:31321. doi: 10.1038/srep31321.

PubMed [citation]
PMID:
27527004
PMCID:
PMC4985647
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV002771874.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant has been identified in at least one individual with clinical features of Charcot-Marie Tooth disease associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In some published literature, this variant is referred to as p.Gly108Val. At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Computational tools predict that this variant is damaging. 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: May 7, 2024