ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.1250G>A (p.Trp417Ter)

dbSNP: rs2128839600
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223447 SCV002501020 likely pathogenic not provided 2021-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002223447 SCV003336796 pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LPL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp417*) 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).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003988878 SCV004805514 pathogenic Hyperlipoproteinemia, type I 2024-03-25 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV002223447 SCV005413826 pathogenic not provided 2024-07-18 criteria provided, single submitter clinical testing PM2, PS4_supporting, PVS1

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