ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.2086_2087+39del

dbSNP: rs1598522408
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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 RCV000813715 SCV000954085 likely pathogenic Majeed syndrome 2018-09-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 15 (c.2086_2087+39del) of the LPIN2 gene. It is expected to disrupt RNA splicing and likely results 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 disease. Loss-of-function variants in LPIN2 are known to be pathogenic (PMID: 15994876, 23087183). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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