NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) AND Cerebral palsy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 10, 2021
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:: RCV001794458.1

Allele description [Variation Report for NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)]

NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)

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.2680C>T (p.Arg894Ter)

HGVS:

NC_000007.14:g.143351678C>T
NG_009815.2:g.40553C>T
NM_000083.3:c.2680C>TMANE SELECT
NP_000074.3:p.Arg894Ter
NC_000007.13:g.143048771C>T
NG_009815.1:g.40553C>T
NM_000083.2:c.2680C>T
NR_046453.2:n.2635C>T
p.Arg894*
p.Arg894X

Protein change:

R894*; ARG894TER

Links:

OMIM: 118425.0015; dbSNP: rs55960271

NCBI 1000 Genomes Browser:

rs55960271

Molecular consequence:

NR_046453.2:n.2635C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000083.3:c.2680C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cerebral palsy
Identifiers:: MONDO: MONDO:0006497; MedGen: C0007789; Human Phenotype Ontology: HP:0100021

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001737576	Neurogenetics Research Program, University of Adelaide	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 10, 2021)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001737576

Neurogenetics Research Program, University of Adelaide

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 10, 2021)

unknown

research

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	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Neurogenetics Research Program, University of Adelaide, SCV001737576.1

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

Description

Diagnosed with cystic fibrosis (p.P508del). Reduced fetal movement and fetal distress syndrome, CLCN1 variant interpreted as contributing to complex phenotype.

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

Last Updated: Oct 20, 2024

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