ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.1204_1205dup (p.Asp402fs)

gnomAD frequency: 0.00001  dbSNP: rs779553737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262015 SCV002543524 likely pathogenic Autoinflammatory syndrome 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005058193 SCV005716457 pathogenic Majeed syndrome 2024-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp402Glufs*8) 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). This variant is present in population databases (rs779553737, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1694293). For these reasons, this variant has been classified as Pathogenic.

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