ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1924_1928del (p.Ser642fs)

dbSNP: rs2077113045
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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 RCV001061770 SCV001226526 pathogenic Majeed syndrome 2019-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser642Argfs*14) in the LPIN2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LPIN2-related conditions. 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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