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NM_000230.3(LEP):c.21C>T (p.Cys7=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Jun 25, 2018
Accession:
VCV000358815.3
Variation ID:
358815
Description:
single nucleotide variant
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NM_000230.3(LEP):c.21C>T (p.Cys7=)

Allele ID
309593
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.1
Genomic location
7: 128252039 (GRCh38) GRCh38 UCSC
7: 127892092 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.127892092C>T
NC_000007.14:g.128252039C>T
NM_000230.3:c.21C>T MANE Select NP_000221.1:p.Cys7= synonymous
NG_007450.1:g.15762C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:128252038:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00009
Exome Aggregation Consortium (ExAC) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00013
Links
ClinGen: CA4469617
dbSNP: rs201523305
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000262044.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000317286.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jun 25, 2018 RCV000733683.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LEP - - GRCh38
GRCh37
86 111

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Monogenic Non-Syndromic Obesity
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466622.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000861776.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001039032.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Leptin deficiency or dysfunction
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466621.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=LEP - - - -

Text-mined citations for rs201523305...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2020