ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs)

dbSNP: rs876660982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219594 SCV000278996 pathogenic not provided 2015-01-12 criteria provided, single submitter clinical testing The c.132_135dupGTGT mutation in the LPIN2 gene causes a frameshift starting with codon Serine 46, changes this amino acid to a Valine residue and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Ser46ValfsX22. This mutation is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, its presence is consistent with a diagnosis of Majeed syndrome.
Labcorp Genetics (formerly Invitae), Labcorp RCV001854731 SCV002163357 pathogenic Majeed syndrome 2022-05-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 234327). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser46Valfs*22) 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).

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