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_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Apr 25, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000226345.2
Variation ID:
226345
Description:
single nucleotide variant
Help

NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)

Allele ID
228158
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>T
NC_000019.9:g.11222195G>T
NM_000527.5:c.1066G>T MANE Select NP_000518.1:p.Asp356Tyr missense
... more HGVS
Protein change
D356Y, D229Y, D315Y, D188Y
Other names
-
Canonical SPDI
NC_000019.10:11111518:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
LDLR-LOVD, British Heart Foundation: LDLR_000523
UniProtKB: P01130#VAR_007984
dbSNP: rs767767730
ClinGen: CA10576297
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Mar 25, 2016 RCV000211697.4
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
3088 3288

Submitted interpretations and evidence

Help
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: SCV000295197.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (3)
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607557.1
Submitted: (Apr 20, 2017)
Evidence details
Pathogenic
(Dec 05, 2011)
no assertion criteria provided
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital
Accession: SCV000268598.1
Submitted: (May 09, 2016)
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: SCV000606316.1
Submitted: (Apr 25, 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
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Fouchier SW Human mutation 2005 PMID: 16250003
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. Van Gaal LF Molecular and cellular probes 2001 PMID: 11851376
Molecular genetics of familial hypercholesterolaemia in Norway. Leren TP Journal of internal medicine 1997 PMID: 9104431

Text-mined citations for rs767767730...

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 Aug 29, 2020