ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.698C>T (p.Thr233Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687638 SCV000815218 uncertain significance Majeed syndrome 2018-07-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 233 of the LPIN2 protein (p.Thr233Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs139654849, ExAC 0.04%). This variant has not been reported in the literature in individuals with LPIN2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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