Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Apr 17, 2017)
Last evaluated:
Mar 30, 2017
Accession:
VCV000430786.1
Variation ID:
430786
Description:
single nucleotide variant
Help

NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe)

Allele ID
424330
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11116897 (GRCh38) GRCh38 UCSC
19: 11227573 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11116897C>T
NC_000019.9:g.11227573C>T
LRG_274t1:c.1744C>T LRG_274p1:p.Leu582Phe
... more HGVS
Protein change
L582F, L414F, L455F, L541F
Other names
-
Canonical SPDI
NC_000019.10:11116896:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA404089710
dbSNP: rs1131692216
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 30, 2017 RCV000495897.2

Clinical features observed in individuals with this variant

Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDLR Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3089 3289

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 30, 2017)
criteria provided, single submitter
Method: clinical testing
Familial Hypercholesterolemia
Allele origin: germline
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
Accession: SCV000583878.1
Submitted: (Mar 31, 2017)
Comment:
ACMG Guidelines: Pathogenic (ii)
Evidence details
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: curation, literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline, not applicable
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge
Accession: SCV000599391.1
Submitted: (Apr 17, 2017)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia. Jiang L Scientific reports 2016 PMID: 27830735

Text-mined citations for rs1131692216...

Help
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 Jun 25, 2020