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NM_000527.4(LDLR):c.1067A>T (p.Asp356Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 16, 2019
Accession:
VCV000440623.4
Variation ID:
440623
Description:
single nucleotide variant
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NM_000527.4(LDLR):c.1067A>T (p.Asp356Val)

Allele ID
434274
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11111520 (GRCh38) GRCh38 UCSC
19: 11222196 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.11222196A>T
NC_000019.10:g.11111520A>T
NM_000527.4:c.1067A>T NP_000518.1:p.Asp356Val missense
... more HGVS
Protein change
D356V, D315V, D188V, D229V
Other names
-
Canonical SPDI
NC_000019.10:11111519:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA404083112
dbSNP: rs879254777
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 Sep 16, 2019 RCV001187845.2
Pathogenic 1 no assertion criteria provided - RCV000508971.1
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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
(Jan 17, 2019)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV001354737.1
Submitted: (May 19, 2020)
Comment:
This missense variant (also known as p.Asp335Val in the mature protein) is located in the EGF-like repeat B of the EGF precursor homology domain of … (more)
Evidence details
Likely pathogenic
(Sep 16, 2019)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Invitae
Accession: SCV001385849.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces aspartic acid with valine at codon 356 of the LDLR protein (p.Asp356Val). The aspartic acid residue is highly conserved and there … (more)
Pathogenic
(-)
no assertion criteria provided
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum
Accession: SCV000606317.1
Submitted: (Apr 25, 2017)
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
A Japanese case of familial hypercholesterolemia with a novel mutation in the <i>LDLR</i> gene. Nagahara K Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2019 PMID: 30745730
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population. Alharbi KK Genome research 2005 PMID: 15998910
Molecular genetics of familial hypercholesterolaemia in Norway. Leren TP Journal of internal medicine 1997 PMID: 9104431

Text-mined citations for rs879254777...

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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 May 10, 2021