ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.689del (p.Pro230fs)

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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 RCV003505652 SCV004334822 pathogenic Majeed syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro230Leufs*2) in the LPIN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LPIN2 are known to be pathogenic (PMID: 15994876, 23087183). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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