ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.272G>A (p.Trp91Ter)

gnomAD frequency: 0.00004  dbSNP: rs118204070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385517 SCV001585399 pathogenic not provided 2024-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp91*) in the LPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LPL are known to be pathogenic (PMID: 11334614). This variant is present in population databases (rs118204070, gnomAD 0.0008%). This premature translational stop signal has been observed in individual(s) with familial lipoprotein lipase (LPL) deficiency (PMID: 1512512, 22095987, 27055971). This variant is also known as Trp64Stop. ClinVar contains an entry for this variant (Variation ID: 1541). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
DASA RCV001813730 SCV002061160 pathogenic Hyperlipidemia, familial combined, LPL related 2022-01-05 criteria provided, single submitter clinical testing The c.272G>A;p.(Trp91*) variant creates a premature translational stop signal in the LPL gene. It is expected to result in an absent or disrupted protein product -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 1541; PMID: 22095987; 27055971; 11334614; 1512512) - PS4. Well-established in vitro or in vivo functional studies support a damaging effect on the gene or gene product (PMID: 1512512) - PS3_supporting. The variant is present at low allele frequencies population databases (rs118204070 – gnomAD 0.002629%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. The variant co-segregated with disease in multiple affected family members (PMID: 1512512) - PP1. In summary, the currently available evidence indicates that the variant is pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV001813730 SCV002761905 pathogenic Hyperlipidemia, familial combined, LPL related 2022-06-16 criteria provided, single submitter clinical testing
OMIM RCV000001606 SCV000021762 pathogenic Hyperlipoproteinemia, type I 1992-06-01 no assertion criteria provided literature only
Natera, Inc. RCV000001606 SCV002083202 pathogenic Hyperlipoproteinemia, type I 2020-01-20 no assertion criteria provided clinical testing

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