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NM_000530.8(MPZ):c.411C>T (p.Gly137=)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 15, 2019
Accession:
VCV000577671.5
Variation ID:
577671
Description:
single nucleotide variant
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NM_000530.8(MPZ):c.411C>T (p.Gly137=)

Allele ID
557010
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.3
Genomic location
1: 161306745 (GRCh38) GRCh38 UCSC
1: 161276535 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_256:g.8228C>T
LRG_256t1:c.411C>T
NC_000001.10:g.161276535G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:161306744:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1558153994
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 15, 2019 RCV000700482.4
Uncertain significance 1 no assertion criteria provided - RCV000789490.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MPZ - - GRCh38
GRCh37
469 495

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 15, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type I
Allele origin: germline
Invitae
Accession: SCV000829239.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects codon 137 of the MPZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Uncertain significance
(-)
no assertion criteria provided
Method: literature only
Dejerine-Sottas disease
Allele origin: germline
Inherited Neuropathy Consortium
Accession: SCV000928846.1
Submitted: (Jul 10, 2019)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. Taioli F Journal of the peripheral nervous system : JPNS 2011 PMID: 21504504

Text-mined citations for rs1558153994...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021