ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.2409G>C (p.Gln803His) (rs876660987)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000215545 SCV000279015 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing To our knowledge, the Q803H missense substitution in the LPIN2 gene has neither been published as a mutation, nor reported as a benign polymorphism. Q803H represents a non-conservative amino acid substitution as a neutral, polar Glutamine amino acid is replaced with a positively-charged Histidine amino acid. In addition, this substitution occurs at a position in the LPIN2 protein that is well-conserved in mammalian species. However, as the clinical information regarding LPIN2 variants is limited, it is unclear whether Q803H is a disease-associated mutation or a rare, benign polymorphism.
Invitae RCV000560055 SCV000645171 uncertain significance Majeed syndrome 2017-07-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 803 of the LPIN2 protein (p.Gln803His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LPIN2-related disease. ClinVar contains an entry for this variant (Variation ID: 234342). 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. 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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