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NM_000527.5(LDLR):c.1297G>C (p.Asp433His)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Apr 25, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000003732.2
Variation ID:
3732
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.1297G>C (p.Asp433His)

Allele ID
18771
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11113388 (GRCh38) GRCh38 UCSC
19: 11224064 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11113388G>C
NC_000019.9:g.11224064G>C
NM_000527.5:c.1297G>C MANE Select NP_000518.1:p.Asp433His missense
... more HGVS
Protein change
D433H, D392H, D265H, D306H
Other names
D412H
FH Osaka 3
Canonical SPDI
NC_000019.10:11113387:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA023450
LDLR-LOVD, British Heart Foundation: LDLR_001390
UniProtKB: P01130#VAR_005385
OMIM: 606945.0050
dbSNP: rs121908036
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Mar 25, 2016 RCV000003930.9
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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
3086 3286

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 25, 2016)
criteria provided, single submitter
Method: literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
LDLR-LOVD, British Heart Foundation
Accession: SCV000295350.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (2)
Pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607582.1
Submitted: (Apr 20, 2017)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum
Accession: SCV000606385.1
Submitted: (Apr 25, 2017)
Evidence details
Pathogenic
(Nov 15, 1992)
no assertion criteria provided
Method: literature only
FH OSAKA 3
Allele origin: germline
OMIM
Accession: SCV000024095.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population. Miyake Y Atherosclerosis 2009 PMID: 18718593
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Mozas P Human mutation 2004 PMID: 15241806
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor. Miyake Y European journal of biochemistry 1992 PMID: 1446662

Text-mined citations for rs121908036...

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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 Aug 29, 2020