ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.347G>C (p.Arg116Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795684 SCV005417226 likely pathogenic Hyperlipidemia, familial combined, LPL related; Hyperlipoproteinemia, type I criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PM3+PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV005061444 SCV005702402 uncertain significance not provided 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 116 of the LPL protein (p.Arg116Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features chylomicronemia (PMID: 32034744, 34544385). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LPL protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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