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NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000214589.13
Variation ID:
214589
Description:
single nucleotide variant
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NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg)

Allele ID
210841
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43947768 (GRCh38) GRCh38 UCSC
2: 44174907 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44174907T>C
NC_000002.12:g.43947768T>C
NG_008247.1:g.53238A>G
NM_133259.4:c.1928A>G MANE Select NP_573566.2:p.His643Arg missense
Protein change
H643R
Other names
-
Canonical SPDI
NC_000002.12:43947767:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00101
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00065
Exome Aggregation Consortium (ExAC) 0.00078
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Links
ClinGen: CA319900
dbSNP: rs148575027
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Apr 28, 2017 RCV000362182.3
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Dec 5, 2020 RCV000676634.6
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000430613.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001068906.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152248.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 06, 2020)
no assertion criteria provided
Method: clinical testing
French-Canadian type Leigh syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001458045.1
Submitted: (Dec 28, 2020)
Evidence details
Likely benign
(Jul 31, 2017)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000802426.1
Submitted: (May 23, 2018)
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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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 rs148575027...

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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 Oct 07, 2021