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NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Dec 12, 2017
Accession:
VCV000555551.1
Variation ID:
555551
Description:
3bp deletion
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NM_133259.4(LRPPRC):c.1935_1937del (p.Leu645_Val646delinsPhe)

Allele ID
542263
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
2p21
Genomic location
2: 43947759-43947761 (GRCh38) GRCh38 UCSC
2: 44174898-44174900 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.44174899_44174901del
NC_000002.12:g.43947760_43947762del
NG_008247.1:g.53245_53247del
NM_133259.4:c.1935_1937del MANE Select NP_573566.2:p.Leu645_Val646delinsPhe
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:43947758:ACCA:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553403993
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 Dec 12, 2017 RCV000671392.1
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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
(Dec 12, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Allele origin: unknown
Counsyl
Accession: SCV000796364.1
Submitted: (Jul 10, 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 rs1553403993...

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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