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NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 10, 2020
Accession:
VCV000554233.3
Variation ID:
554233
Description:
4bp deletion
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NM_133259.4(LRPPRC):c.1865_1868del (p.Ile622fs)

Allele ID
542122
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
2p21
Genomic location
2: 43948174-43948177 (GRCh38) GRCh38 UCSC
2: 44175313-44175316 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44175315_44175318del
NC_000002.12:g.43948176_43948179del
NG_008247.1:g.52829_52832del
... more HGVS
Protein change
I622fs
Other names
-
Canonical SPDI
NC_000002.12:43948173:TAGATA:TA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs752914914
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 4, 2017 RCV000669822.1
Pathogenic 1 criteria provided, single submitter Aug 10, 2020 RCV001205402.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Oct 04, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000794611.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Aug 10, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001376656.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Ile622Thrfs*16) in the LRPPRC gene. It is expected to result in an absent or disrupted protein … (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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Title Author Journal Year Link
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Oláhová M Brain : a journal of neurology 2015 PMID: 26510951

Text-mined citations for rs752914914...

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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 08, 2021