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NM_000527.5(LDLR):c.980A>C (p.His327Pro)

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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: Sep 16, 2020)
Last evaluated:
Oct 9, 2019
Accession:
VCV000918325.2
Variation ID:
918325
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.980A>C (p.His327Pro)

Allele ID
914728
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11110691 (GRCh38) GRCh38 UCSC
19: 11221367 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_274:g.26311A>C
LRG_274t1:c.980A>C
NC_000019.10:g.11110691A>C
... more HGVS
Protein change
H200P, H327P, H159P, H286P
Other names
-
Canonical SPDI
NC_000019.10:11110690:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2077361686
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 9, 2019 RCV001175869.1
Likely pathogenic 1 criteria provided, single submitter Dec 7, 2018 RCV001255944.1
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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
3093 3293

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 09, 2019)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV001339654.1
Submitted: (May 19, 2020)
Comment:
This missense variant (also known as p.His306Pro in the mature protein) replaces histidine with proline at codon 327 of the LDLR protein. Computational prediction suggests … (more)
Evidence details
Likely pathogenic
(Dec 07, 2018)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia 1
Allele origin: germline
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia
Accession: SCV001432621.1
Submitted: (Sep 16, 2020)
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
Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia. Trinder M Journal of the American College of Cardiology 2019 PMID: 31345425

Text-mined citations for rs2077361686...

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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 Nov 27, 2021