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NM_000237.3(LPL):c.213C>G (p.His71Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 7, 2021)
Last evaluated:
Mar 22, 2021
Accession:
VCV000495743.7
Variation ID:
495743
Description:
single nucleotide variant
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NM_000237.3(LPL):c.213C>G (p.His71Gln)

Allele ID
487375
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8p21.3
Genomic location
8: 19948304 (GRCh38) GRCh38 UCSC
8: 19805815 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.19805815C>G
NC_000008.11:g.19948304C>G
NG_008855.1:g.14234C>G
... more HGVS
Protein change
H71Q
Other names
-
Canonical SPDI
NC_000008.11:19948303:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00323
Trans-Omics for Precision Medicine (TOPMed) 0.00340
1000 Genomes Project 0.00379
Links
ClinGen: CA4655340
dbSNP: rs11542065
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Mar 22, 2021 RCV000588713.6
Likely benign 1 no assertion criteria provided Jan 10, 2020 RCV001272627.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LPL - - GRCh38
GRCh37
342 413

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696008.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The LPL c.213C>G (p.His71Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a missense substitution in the Alpha/Beta hydrolase fold, the … (more)
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001116083.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 22, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001834626.1
Submitted: (Sep 07, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 33303402, 22129523)
Likely benign
(Jan 10, 2020)
no assertion criteria provided
Method: clinical testing
Lipoprotein lipase deficiency
Allele origin: germline
Natera, Inc.
Accession: SCV001454750.1
Submitted: (Dec 28, 2020)
Evidence details

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
Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach. Minicocci I Atherosclerosis 2015 PMID: 26342331

Text-mined citations for rs11542065...

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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 Sep 24, 2021