ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)

dbSNP: rs121908681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542712 SCV001760489 pathogenic Autosomal recessive Parkinson disease 14 criteria provided, single submitter clinical testing
GeneDx RCV003319301 SCV004023584 likely pathogenic not provided 2023-01-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 16783378, 18443314, 32581362, 34758253)
OMIM RCV000006573 SCV000026756 pathogenic Neurodegeneration with brain iron accumulation 2B 2006-07-01 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003639 SCV001162066 pathogenic Congenital cerebellar hypoplasia; Cerebellar ataxia; Global developmental delay; Microcephaly; Developmental regression no assertion criteria provided research

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