NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND multiple conditions

replaced

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 2016
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:: RCV001196629.1

Allele description

NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)

HGVS:

NC_000007.14:g.143321432C>G
NG_009815.1:g.10307C>G
NG_009815.2:g.10307C>G
NM_000083.3:c.501C>GMANE SELECT
NP_000074.3:p.Phe167Leu
NC_000007.13:g.143018525C>G
NM_000083.2:c.501C>G
NR_046453.2:n.603C>G
P35523:p.Phe167Leu

Protein change:

F167L

Links:

UniProtKB: P35523#VAR_001588; dbSNP: rs149729531

NCBI 1000 Genomes Browser:

rs149729531

Molecular consequence:

NM_000083.3:c.501C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_046453.2:n.603C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Myotonia
Synonyms:: Delayed relaxation of muscle fibers after contraction
Identifiers:: MedGen: C0700153; Human Phenotype Ontology: HP:0002486

Name:: EMG: myotonic discharges
Identifiers:: MedGen: C4022169; Human Phenotype Ontology: HP:0100284

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001367247	Centre for Mendelian Genomics,University Medical Centre Ljubljana	criteria provided, single submitter (ACMG guidelines, Richards 2015)	Likely pathogenic (Jan 1, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001367247

Centre for Mendelian Genomics,University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG guidelines, Richards 2015)

Likely pathogenic
(Jan 1, 2016)

germline

clinical testing

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	clinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Centre for Mendelian Genomics,University Medical Centre Ljubljana, SCV001367247.1

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

Description

This variant was classified as: Pathogenic. This variant was detected in heterozygous state.

#	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: Dec 1, 2020

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