NM_000530.8(MPZ):c.123_125del (p.Val42del) AND Dejerine-Sottas disease

Germline classification:: Uncertain significance (1 submission)
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:: RCV000789683.1

Allele description [Variation Report for NM_000530.8(MPZ):c.123_125del (p.Val42del)]

NM_000530.8(MPZ):c.123_125del (p.Val42del)

Gene:

MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.8(MPZ):c.123_125del (p.Val42del)

HGVS:

NC_000001.11:g.161307367_161307369del
NG_008055.1:g.7604_7606del
NM_000530.8:c.123_125delMANE SELECT
NM_001315491.2:c.123_125del
NP_000521.2:p.Val42del
NP_001302420.1:p.Val42del
LRG_256:g.7604_7606del
NC_000001.10:g.161277157_161277159del
NM_000530.8:c.123_125delTGTMANE SELECT

Protein change:

V42del

Links:

dbSNP: rs1571820248

NCBI 1000 Genomes Browser:

rs1571820248

Molecular consequence:

NM_000530.8:c.123_125del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001315491.2:c.123_125del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Dejerine-Sottas disease
Synonyms:: HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; Hypertrophic neuropathy of Dejerine-Sottas; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000929058	Inherited Neuropathy Consortium	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000929058

Inherited Neuropathy Consortium

no assertion criteria provided

Uncertain significance

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.

Planté-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, Eraksoy M, Said G.

J Neurol. 2001 Sep;248(9):795-803.

PubMed [citation]

PMID:: 11596785

Details of each submission

From Inherited Neuropathy Consortium, SCV000929058.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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