NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) AND Autosomal dominant intermediate Charcot-Marie-Tooth disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 26, 2018
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:: RCV000664241.2

Allele description [Variation Report for NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)]

NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)

Gene:

CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)

Other names:

dbSNP ID: rs768119034

HGVS:

NC_000007.14:g.143339288_143339301del
NG_009815.2:g.28163_28176del
NM_000083.3:c.1437_1450delMANE SELECT
NP_000074.3:p.Pro480fs
NC_000007.13:g.143036380_143036393del
NC_000007.13:g.143036381_143036394del
NG_009815.1:g.28163_28176del
NM_000083.2:c.1437_1450delACCCTGCGGAGGCT
NM_000083.3:c.1437_1450del14MANE SELECT
NM_000083.3:c.1437_1450delACCCTGCGGAGGCTMANE SELECT
NR_046453.2:n.1392_1405del
p.Pro480Hisfs*24

Protein change:

P480fs

Links:

OMIM: 118425.0009; dbSNP: rs768119034

Molecular consequence:

NM_000083.3:c.1437_1450del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_046453.2:n.1392_1405del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Autosomal dominant intermediate Charcot-Marie-Tooth disease
Identifiers:: MONDO: MONDO:0019548; MedGen: C5680178

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000787809	Institute of Human Genetics, Cologne University	no assertion criteria provided	Uncertain significance (Apr 26, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000787809

Institute of Human Genetics, Cologne University

no assertion criteria provided

Uncertain significance
(Apr 26, 2018)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV000787809.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Jun 20, 2026

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