ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.696del (p.Thr233fs)

dbSNP: rs2144209550
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre RCV001420968 SCV001622809 pathogenic Majeed syndrome 2020-10-08 criteria provided, single submitter clinical testing LPIN2 gene has been implicated in the Majeed Syndrome earlier. The disease is a rare autosomal recessive disorder caused by mutations in LPIN2, the gene encoding the phosphatidic acid phosphatase LIPIN2. (Ferguson, P. J. et.al J. Med. Genet. 42: 551-557, 2005. [PubMed: 15994876]) LPIN2 deficiency is pro-inflammatory and enhances osteoclastogenesis.(F. Bhuyan et. al Arthritis Rheumatol. 2020 Dec 14. doi: 10.1002/art.41624. )

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