Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Jul 25, 2017
Accession:
VCV000553013.1
Variation ID:
553013
Description:
1bp duplication
Help

NM_133259.4(LRPPRC):c.4128dup (p.Glu1377Ter)

Allele ID
541986
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43889733-43889734 (GRCh38) GRCh38 UCSC
2: 44116872-44116873 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_133259.3:c.4128dupT
NC_000002.11:g.44116873dup
NC_000002.12:g.43889734dup
... more HGVS
Protein change
E1377*
Other names
-
Canonical SPDI
NC_000002.12:43889733:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1163476569
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 25, 2017 RCV000668374.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LRPPRC - - GRCh38
GRCh37
785 806

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 25, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000792962.1
Submitted: (Jul 10, 2018)
Evidence details

Functional evidence

Help
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

Help
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 rs1163476569...

Help
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 Oct 08, 2021