ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)

dbSNP: rs797045889
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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 RCV000193975 SCV000248525 likely pathogenic Neurodegeneration with brain iron accumulation 2B 2013-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001582688 SCV001821326 uncertain significance not specified 2021-08-20 criteria provided, single submitter clinical testing Variant summary: PLA2G6 c.945_947dupCGC (p.Ala316dup) results in an in-frame duplication that is predicted to duplicate one amino acid into the encoded protein. The variant was absent in 174588 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.945_947dupCGC has been reported in the literature in an individual affected with Neurodegeneration With Brain Iron Accumulation in the compound heterozygous state (Al-Maawali_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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