ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) (rs121908685)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535771 SCV000632025 uncertain significance Infantile neuroaxonal dystrophy 2017-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 80 of the PLA2G6 protein (p.Ala80Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs121908685, ExAC 0.01%). This variant has been reported as homozygous and in combination with another PLA2G6 variant in an several individuals affected with neurodegeneration with brain iron accumulation, atypical late-onset neuroaxonal dystrophy, or infantile neuroaxonal dystrophy (PMID: 16783378, 27196560, 22934738). This variant has been reported as heterozygous in an individual affected with Parkinson's disease (PMID: 23192926). ClinVar contains an entry for this variant (Variation ID: 6202) Experimental studies have shown that this missense change is able to fully restore normal Ca2+ signaling function  (PMID: 26755131). In summary, this variant has uncertain impact on PLA2G6 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660638 SCV000782761 uncertain significance Infantile neuroaxonal dystrophy; Neurodegeneration with brain iron accumulation 2b; Parkinson disease 14 2018-01-08 criteria provided, single submitter clinical testing
OMIM RCV000006580 SCV000026763 pathogenic Neurodegeneration with brain iron accumulation 2b 2008-10-28 no assertion criteria provided literature only

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