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NM_000527.5(LDLR):c.1066G>C (p.Asp356His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Apr 20, 2017)
Last evaluated:
Nov 5, 2016
Accession:
VCV000251644.1
Variation ID:
251644
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.1066G>C (p.Asp356His)

Allele ID
245967
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11111519 (GRCh38) GRCh38 UCSC
19: 11222195 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11111519G>C
NC_000019.9:g.11222195G>C
NM_000527.5:c.1066G>C MANE Select NP_000518.1:p.Asp356His missense
... more HGVS
Protein change
D356H, D188H, D229H, D315H
Other names
-
Canonical SPDI
NC_000019.10:11111518:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
LDLR-LOVD, British Heart Foundation: LDLR_000158
dbSNP: rs767767730
ClinGen: CA10585286
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 Nov 5, 2016 RCV000238556.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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: SCV000295196.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (2)
Likely pathogenic
(Nov 05, 2016)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
(Autosomal dominant inheritance)
Allele origin: unknown
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation
Additional submitter:
Centre of Molecular Biology and Gene Therapy,University Hospital Brno
Accession: SCV000540790.1
Submitted: (Mar 30, 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: SCV000607556.1
Submitted: (Apr 20, 2017)
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
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. Chmara M Journal of applied genetics 2010 PMID: 20145306
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--. Maruyama T Journal of atherosclerosis and thrombosis 2004 PMID: 15256764

Text-mined citations for rs767767730...

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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