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NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 2019
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:
RCV000711216.3

Allele description [Variation Report for NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)]

NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)

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.1262G>T (p.Arg421Leu)
HGVS:
  • NC_000007.14:g.143332734G>T
  • NG_009815.1:g.21609G>T
  • NM_000083.3:c.1262G>TMANE SELECT
  • NP_000074.3:p.Arg421Leu
  • NC_000007.13:g.143029827G>T
  • NM_000083.2:c.1262G>T
Protein change:
R421L
Links:
dbSNP: rs780834658
NCBI 1000 Genomes Browser:
rs780834658
Molecular consequence:
  • NM_000083.3:c.1262G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

  • Marburg Virus Disease
    Marburg Virus Disease
    An RNA virus infection of rhesus, vervet, and squirrel monkeys transmissible to man.<br/>Year introduced: 1975
    MeSH
  • D008379 (1)
    MeSH

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000841548Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)
Uncertain significance
(Sep 23, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000841548.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024