ClinVar Miner

Submissions for variant NC_000018.10:g.(?_2926703)_(2929178_?)del

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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 RCV001032247 SCV001195554 pathogenic Majeed syndrome 2020-10-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LPIN2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is a gross deletion of the genomic region encompassing exon(s) 10-13 of the LPIN2 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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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