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NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 29, 2018)
Last evaluated:
Apr 23, 2018
Accession:
VCV000431535.1
Variation ID:
431535
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)

Allele ID
425049
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11116953 (GRCh38) GRCh38 UCSC
19: 11227629 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_274:g.32573G>C
LRG_274t1:c.1800G>C LRG_274p1:p.Glu600Asp
NC_000019.10:g.11116953G>C
... more HGVS
Protein change
E600D, E432D, E473D, E559D
Other names
-
Canonical SPDI
NC_000019.10:11116952:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA404089805
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 Apr 23, 2018 RCV000497106.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDLR Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3093 3293

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: HipercolBrasil
Accession: SCV000588607.1
Submitted: (Aug 04, 2017)
Evidence details
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607642.1
Submitted: (Apr 20, 2017)
Evidence details
Uncertain significance
(Apr 23, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Invitae
Accession: SCV000827107.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glutamic acid with aspartic acid at codon 600 of the LDLR protein (p.Glu600Asp). The glutamic acid residue is moderately conserved and … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect. Junyent M Arteriosclerosis, thrombosis, and vascular biology 2008 PMID: 18096825

Record last updated Dec 04, 2021