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NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 27, 2019)
Last evaluated:
Feb 14, 2017
Accession:
VCV000550645.2
Variation ID:
550645
Description:
single nucleotide variant
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NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter)

Allele ID
542130
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 43957445 (GRCh38) GRCh38 UCSC
2: 44184584 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44184584G>T
NC_000002.12:g.43957445G>T
NG_008247.1:g.43561C>A
NM_133259.4:c.1589C>A MANE Select NP_573566.2:p.Ser530Ter nonsense
Protein change
S530*
Other names
-
Canonical SPDI
NC_000002.12:43957444:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs775735922
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 Feb 14, 2017 RCV000665443.2
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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
(Feb 14, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000789569.1
Submitted: (Jul 10, 2018)
Evidence details
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: germline
Baylor Genetics
Accession: SCV001162957.1
Submitted: (Sep 27, 2019)
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 rs775735922...

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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