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NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 16, 2021)
Last evaluated:
Dec 7, 2019
Accession:
VCV000437225.3
Variation ID:
437225
Description:
single nucleotide variant
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NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile)

Allele ID
429009
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.2
Genomic location
9: 2651909 (GRCh38) GRCh38 UCSC
9: 2651909 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.2651909G>A
NC_000009.12:g.2651909G>A
NM_003383.5:c.2371G>A MANE Select NP_003374.3:p.Val791Ile missense
... more HGVS
Protein change
V791I, V763I, V750I, V722I
Other names
-
Canonical SPDI
NC_000009.12:2651908:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00054
The Genome Aggregation Database (gnomAD) 0.00054
Exome Aggregation Consortium (ExAC) 0.00012
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
Links
ClinGen: CA4965176
dbSNP: rs35334949
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 Jun 5, 2017 RCV000503816.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 7, 2019 RCV001434527.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VLDLR - - GRCh38
GRCh37
230 447

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 05, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000597858.1
Submitted: (Jul 05, 2017)
Evidence details
Likely benign
(Dec 07, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001637336.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(May 31, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001753958.1
Submitted: (Jul 16, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs35334949...

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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 17, 2021