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NM_000530.8(MPZ):c.130_137del (p.Ser44fs) AND Charcot-Marie-Tooth disease, type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2023
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:
RCV001044115.8

Allele description [Variation Report for NM_000530.8(MPZ):c.130_137del (p.Ser44fs)]

NM_000530.8(MPZ):c.130_137del (p.Ser44fs)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.130_137del (p.Ser44fs)
HGVS:
  • NC_000001.11:g.161307355_161307362del
  • NG_008055.1:g.7611_7618del
  • NM_000530.8:c.130_137delMANE SELECT
  • NM_001315491.2:c.130_137del
  • NP_000521.2:p.Ser44fs
  • NP_001302420.1:p.Ser44fs
  • LRG_256t1:c.130_137del
  • LRG_256:g.7611_7618del
  • NC_000001.10:g.161277145_161277152del
  • NM_000530.6:c.130_137del
  • NM_000530.6:c.130_137delTCCCGGGT
  • NM_000530.7:c.130_137del8
  • p.Ser44Aspfs*10
Protein change:
S44fs
Links:
dbSNP: rs1571820186
NCBI 1000 Genomes Browser:
rs1571820186
Molecular consequence:
  • NM_000530.8:c.130_137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001315491.2:c.130_137del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Charcot-Marie-Tooth disease, type I (CMT1)
Synonyms:
Charcot-Marie-Tooth Neuropathy Type 1; Hereditary Motor and Sensory Neuropathy 1; Charcot-Marie-Tooth, Type 1
Identifiers:
MONDO: MONDO:0019011; MedGen: C0751036

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001207892Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Aug 10, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Phenotypic clustering in MPZ mutations.

Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.

Brain. 2004 Feb;127(Pt 2):371-84. Epub 2004 Jan 7. Review.

PubMed [citation]
PMID:
14711881

A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.

Chavada G, Rao DG, Martindale J, Hadjivassiliou M.

J Clin Neuromuscul Dis. 2012 Jun;13(4):206-8. doi: 10.1097/CND.0b013e3182461a83.

PubMed [citation]
PMID:
22622165
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001207892.5

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

Description

This sequence change creates a premature translational stop signal (p.Ser44Aspfs*10) in the MPZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPZ are known to be pathogenic (PMID: 14711881). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (PMID: 22622165). This variant is also known as c.160_167delTCCCGGGT. ClinVar contains an entry for this variant (Variation ID: 637764). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024