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NM_000237.3(LPL):c.998G>A (p.Arg333His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002386360.2

Allele description [Variation Report for NM_000237.3(LPL):c.998G>A (p.Arg333His)]

NM_000237.3(LPL):c.998G>A (p.Arg333His)

Gene:
LPL:lipoprotein lipase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_000237.3(LPL):c.998G>A (p.Arg333His)
Other names:
p.Arg333His
HGVS:
  • NC_000008.11:g.19956063G>A
  • NG_008855.2:g.59347G>A
  • NM_000237.3:c.998G>AMANE SELECT
  • NP_000228.1:p.Arg333His
  • LRG_1298t1:c.998G>A
  • LRG_1298:g.59347G>A
  • LRG_1298p1:p.Arg333His
  • NC_000008.10:g.19813574G>A
  • NC_000008.10:g.19813574G>A
  • NG_008855.1:g.21993G>A
  • NM_000237.2:c.998G>A
Protein change:
R333H
Links:
dbSNP: rs144466625
NCBI 1000 Genomes Browser:
rs144466625
Molecular consequence:
  • NM_000237.3:c.998G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002689653Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 1, 2022) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.

Martín-Campos JM, Julve J, Roig R, Martínez S, Errico TL, Martínez-Couselo S, Escolà-Gil JC, Méndez-González J, Blanco-Vaca F.

Clin Chim Acta. 2014 Feb 15;429:61-8. doi: 10.1016/j.cca.2013.11.025. Epub 2013 Dec 1.

PubMed [citation]
PMID:
24291057

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Rabacchi C, Pisciotta L, Cefalù AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S.

Atherosclerosis. 2015 Jul;241(1):79-86. doi: 10.1016/j.atherosclerosis.2015.04.815. Epub 2015 May 1.

PubMed [citation]
PMID:
25966443
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002689653.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The p.R333H variant (also known as c.998G>A), located in coding exon 6 of the LPL gene, results from a G to A substitution at nucleotide position 998. The arginine at codon 333 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported as compound heterozygous with an additional pathogenic alteration in LPL in an individual with familial chylomicronemia syndrome (FCS) (Martín-Campos JM et al. Clin Chim Acta, 2014 Feb;429:61-8). This alteration has also been reported in individuals with severe hypertriglyceridemia with no additional pathogenic alteration in LPL identified (Rabacchi C et al. Atherosclerosis, 2015 Jul;241:79-86; Retterstøl K et al. Lipids Health Dis, 2017 Jun;16:115). Additionally, this alteration may impact LPL catalytic activity (Martín-Campos JM et al. Clin Chim Acta, 2014 Feb;429:61-8). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024