ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.474C>G (p.Tyr158Ter)

dbSNP: rs767027334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380878 SCV001579063 pathogenic not provided 2020-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LPL are known to be pathogenic (PMID: 11334614). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with LPL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr158*) in the LPL gene. It is expected to result in an absent or disrupted protein product.

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