ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.2650C>T (p.Arg884Ter) (rs547662448)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000222683 SCV000279017 uncertain significance not specified 2017-05-08 criteria provided, single submitter clinical testing The R884X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R884X nonsense variant results in the loss of the final 13 amino acids of the LPIN2 protein; however, no nonsense-mediated decay is predicted and no downstream loss of function variants have been reported to our knowledge. The variant is observed in 6/120838 (.00497%) alleles in the ExAC dataset (Lek et al., 2016).
Invitae RCV000644771 SCV000766482 uncertain significance Majeed syndrome 2017-12-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the LPIN2 gene (p.Arg884*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 13 amino acids of the LPIN2 protein. This variant is present in population databases (rs547662448, ExAC 0.02%). This variant has not been reported in the literature in individuals with LPIN2-related disease. ClinVar contains an entry for this variant (Variation ID: 234344). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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