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NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 17, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001727428.21

Allele description [Variation Report for NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)]

NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)

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.1730T>G (p.Leu577Arg)
HGVS:
  • NC_000007.14:g.143342076T>G
  • NG_009815.2:g.30951T>G
  • NM_000083.2:c.1730T>G
  • NM_000083.3:c.1730T>GMANE SELECT
  • NP_000074.3:p.Leu577Arg
  • NC_000007.13:g.143039169T>G
  • NG_009815.1:g.30951T>G
  • NR_046453.2:n.1685T>G
Protein change:
L577R
Links:
dbSNP: rs2116373216
NCBI 1000 Genomes Browser:
rs2116373216
Molecular consequence:
  • NM_000083.3:c.1730T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046453.2:n.1685T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001962102CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Uncertain significance
(Sep 1, 2021) 		germlineclinical testing

Citation Link,

SCV004027995GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 17, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001962102.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV004027995.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024