ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.1339G>A (p.Val447Met) (rs373758040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506154 SCV000604119 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV000553916 SCV000645162 uncertain significance Majeed syndrome 2018-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 447 of the LPIN2 protein (p.Val447Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs373758040, ExAC 0.01%). 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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