ClinVar Miner

Submissions for variant NM_000237.3(LPL):c.46_47del (p.Gln16fs)

dbSNP: rs1376148269
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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 RCV001971967 SCV002203090 pathogenic not provided 2022-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln16Glufs*24) 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 (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with LPL-related conditions (PMID: 17717288, 33303402). This variant is also known as p.Q-12E>11X. For these reasons, this variant has been classified as Pathogenic.

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