ClinVar Miner

Submissions for variant NC_000018.10:g.(?_2921533)_(2938037_?)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 RCV000550940 SCV000645156 likely pathogenic Majeed syndrome 2016-08-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 7-18 of the LPIN2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion disrupts the DXDXT and LXXIL motifs that are known to be key for protein function in another member of the Lipin family of proteins, LPIN1 (PMID: 16950137, 19369868). For these reasons, this variant has been classified as Likely Pathogenic.

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