ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.640A>T (p.Arg214Ter)

dbSNP: rs2069962309
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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 RCV001219282 SCV001391214 pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 948095). 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.Arg214*) 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).

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