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NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: May 19, 2020)
Last evaluated:
Mar 24, 2020
Accession:
VCV000251252.2
Variation ID:
251252
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.491T>C (p.Leu164Pro)

Allele ID
245589
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11105397 (GRCh38) GRCh38 UCSC
19: 11216073 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11105397T>C
NC_000019.9:g.11216073T>C
NM_000527.5:c.491T>C MANE Select NP_000518.1:p.Leu164Pro missense
... more HGVS
Protein change
L164P, L123P
Other names
-
Canonical SPDI
NC_000019.10:11105396:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10584944
LDLR-LOVD, British Heart Foundation: LDLR_001136
dbSNP: rs879254544
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 25, 2016 RCV000238579.1
Uncertain significance 1 criteria provided, single submitter Mar 24, 2020 RCV001186869.1
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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
3087 3287

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: SCV000294739.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Mar 24, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV001353459.1
Submitted: (May 19, 2020)
Comment:
This missense variant (also known as p.Leu143Pro in the mature protein) replaces leucine with proline at codon 164 of the LDLR protein. Computational prediction suggests … (more)
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
The molecular basis of familial hypercholesterolaemia in Turkish patients. Sözen MM Atherosclerosis 2005 PMID: 15823276

Text-mined citations for rs879254544...

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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 Apr 08, 2021