ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) (rs587784347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147314 SCV000194687 likely pathogenic Iron accumulation in brain 2013-02-08 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network,NIH RCV000537119 SCV000622145 likely pathogenic Infantile neuroaxonal dystrophy 2016-04-13 no assertion criteria provided clinical testing Variant previously reported in two other patients with this phenotype tested the by the same laboratory (one listed in ClinVar). One patient was reportedly homozygous for this variant, while the other was compound heterozygous. Variant is rare (2 heterozygotes in ExAC). Likely pathogenicity given patient’s phenotype consistent with known phenotype associated with gene, infantile neuroaxonal dystrophy (MIM 256600), homozygous rare variant in patient with consanguineous parents, variant reportedly identified in two other patients with this phenotype.

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