ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) (rs147455037)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454205 SCV000537970 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Invitae RCV000804046 SCV000943938 uncertain significance Infantile neuroaxonal dystrophy 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 710 of the PLA2G6 protein (p.Arg710His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs147455037, ExAC 0.01%). This variant has been observed in an individual affected with intellectual disability, epilepsy, cortical atrophy, and cerebellar hypoplasia (PMID: 26539891). This variant is also known as NM_001199562: c.G1967A; p.R656H in the literature. ClinVar contains an entry for this variant (Variation ID: 402191). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
GeneDx RCV001550736 SCV001771116 likely pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31493945, 26539891)

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