ClinVar Miner

Submissions for variant NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)

gnomAD frequency: 0.00890  dbSNP: rs11570680
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000147279 SCV000194652 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001094820 SCV000438654 benign PLA2G6-associated neurodegeneration 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000385486 SCV000632021 benign Infantile neuroaxonal dystrophy 2021-12-18 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000147279 SCV000705668 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001579750 SCV001947911 benign not provided 2019-04-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25174650, 27393345, 30340910)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000147279 SCV002050943 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001579750 SCV002496746 benign not provided 2022-08-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000147279 SCV001742197 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579750 SCV001808384 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000147279 SCV001919115 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579750 SCV001974311 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001579750 SCV002035957 likely benign not provided no assertion criteria provided clinical testing

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