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NM_000527.5(LDLR):c.1802A>T (p.Asp601Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 14, 2016)
Last evaluated:
Mar 25, 2016
Accession:
VCV000252040.1
Variation ID:
252040
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.1802A>T (p.Asp601Val)

Allele ID
246341
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11116955 (GRCh38) GRCh38 UCSC
19: 11227631 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11116955A>T
NC_000019.9:g.11227631A>T
NM_000527.5:c.1802A>T MANE Select NP_000518.1:p.Asp601Val missense
... more HGVS
Protein change
D601V, D560V, D433V, D474V
Other names
-
Canonical SPDI
NC_000019.10:11116954:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585621
LDLR-LOVD, British Heart Foundation: LDLR_001525
dbSNP: rs879255027
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 25, 2016 RCV000237380.2
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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
3089 3289

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: SCV000295667.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge
Accession: SCV000322976.1
Submitted: (Oct 14, 2016)
Evidence details
Comment:
0/220 non-FH alleles

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
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement. Medeiros AM Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26020417

Text-mined citations for rs879255027...

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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