ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.589C>T (p.Arg197Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687297 SCV000814856 pathogenic Majeed syndrome 2017-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg197*) in the LPIN2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs750126005, ExAC 0.006%). This variant has not been reported in the literature in individuals with LPIN2-related disease. Loss-of-function variants in LPIN2 are known to be pathogenic (PMID: 15994876, 23087183). For these reasons, this variant has been classified as Pathogenic.

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