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NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2020
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:
RCV001290031.3

Allele description [Variation Report for NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)]

NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)

Gene:
CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)
HGVS:
  • NC_000001.11:g.11834367A>G
  • NG_008766.1:g.33218A>G
  • NM_001256959.2:c.1592A>G
  • NM_001286.5:c.1658A>GMANE SELECT
  • NP_001243888.2:p.Tyr531Cys
  • NP_001277.2:p.Tyr553Cys
  • NC_000001.10:g.11894424A>G
  • NM_001286.3:c.1658A>G
  • NM_001286.4:c.1658A>G
  • NR_046428.2:n.1714A>G
  • p.Y553C
Protein change:
Y531C; TYR553CYS
Links:
OMIM: 602726.0001; dbSNP: rs1644918844
NCBI 1000 Genomes Browser:
rs1644918844
Molecular consequence:
  • NM_001256959.2:c.1592A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286.5:c.1658A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046428.2:n.1714A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Motor delay
Synonyms:
Motor retardation; motor developmental delay
Identifiers:
MedGen: C1854301; Human Phenotype Ontology: HP:0001270
Name:
Feeding difficulties
Identifiers:
MedGen: C0232466; Human Phenotype Ontology: HP:0011968
Name:
EEG abnormality
Synonyms:
EEG abnormalities; Electroencephalogram (EEG) abnormalities
Identifiers:
MedGen: C0151611; Human Phenotype Ontology: HP:0002353
Name:
Neurogenic bladder
Identifiers:
MedGen: C0005697; Human Phenotype Ontology: HP:0000011
Name:
Abnormality of vision
Identifiers:
MedGen: C4025846; Human Phenotype Ontology: HP:0000504
Name:
Abnormality of the skin
Identifiers:
MedGen: C5848159; Human Phenotype Ontology: HP:0000951
Name:
Abnormality of the respiratory system
Identifiers:
MedGen: C4018871; Human Phenotype Ontology: HP:0002086
Name:
Abnormal speech pattern
Synonyms:
Neurological speech impairment; Speech impairment
Identifiers:
MedGen: C3687424; Human Phenotype Ontology: HP:0002167
Name:
Abnormality of temperature regulation
Identifiers:
MedGen: C1832160; Human Phenotype Ontology: HP:0004370
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252
Name:
Movement disorder
Synonyms:
Movement disorders; Abnormality of movement
Identifiers:
MONDO: MONDO:0005395; MedGen: C0026650; Human Phenotype Ontology: HP:0100022

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426224Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 1, 2020) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

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 Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital, SCV001426224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024