ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) (rs80338807)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222509 SCV000279014 pathogenic not provided 2013-02-19 criteria provided, single submitter clinical testing The S734L missense mutation in the LPIN2 gene has been reported previously in association with Majeed syndrome (Ferguson et al., 2005). This mutation occurs at a conserved position in the LPIN2 protein that is part of the C-LIP domain region. Functional studies of this mutation revealed that its presence abolishes the normal phosphatidate phosphatase (PAP) enzymatic activity of the LPIN2 protein (Donkor et al., 2009).
GeneReviews RCV000005190 SCV000041266 pathologic Majeed syndrome 2008-09-23 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000005190 SCV000025367 pathogenic Majeed syndrome 2005-07-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000005190 SCV000116191 not provided Majeed syndrome no assertion provided not provided

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