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NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: May 26, 2021)
Last evaluated:
May 24, 2021
Accession:
VCV000226371.4
Variation ID:
226371
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr)

Allele ID
228183
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11116888 (GRCh38) GRCh38 UCSC
19: 11227564 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11116888G>T
NC_000019.9:g.11227564G>T
NG_009060.1:g.32508G>T
... more HGVS
Protein change
D579Y, D411Y, D452Y, D538Y
Other names
FH Casale Monferrato
Canonical SPDI
NC_000019.10:11116887:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs875989929
ClinGen: CA10576317
LDLR-LOVD, British Heart Foundation: LDLR_000561
UniProtKB: P01130#VAR_062382
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 6 criteria provided, multiple submitters, no conflicts May 24, 2021 RCV000211648.8

Clinical features observed in individuals with this variant

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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
3091 3291

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: SCV000295625.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Dec 16, 2016)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
Allele origin: germline
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
Accession: SCV000503402.1
Submitted: (Jan 23, 2017)
Evidence details
Comment:
subject mutated among 2600 FH index cases screened = 1 /Other mutation at same codon/Software predictions: Conflicting
Likely 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: SCV000583874.1
Submitted: (Mar 31, 2017)
Comment:
ACMG Guidelines: Likely Pathogenic (v)
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: SCV000599389.1
Submitted: (Apr 17, 2017)
Evidence details
Likely pathogenic
(May 24, 2021)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
Allele origin: germline
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II
Accession: SCV001653650.1
Submitted: (May 26, 2021)
Evidence details
Publications
PubMed (3)
Pathogenic
(Jun 26, 2015)
no assertion criteria provided
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital
Accession: SCV000268634.1
Submitted: (May 09, 2016)
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
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio. Di Taranto MD Clinical chemistry and laboratory medicine 2019 PMID: 30710474
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Bertolini S Atherosclerosis 2013 PMID: 23375686
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype. Bertolini S Arteriosclerosis, thrombosis, and vascular biology 2000 PMID: 10978268

Text-mined citations for rs875989929...

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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 Oct 21, 2021