ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter)

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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 RCV003041328 SCV003443330 pathogenic Majeed syndrome 2022-09-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Majeed syndrome (PMID: 28600779). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg562*) 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).

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