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

gnomAD frequency: 0.00890  dbSNP: rs11570680

Total submissions: 14

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000385486	SCV000632021	benign	Infantile neuroaxonal dystrophy	2025-01-30	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	2025-02-01	criteria provided, single submitter	clinical testing	PLA2G6: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001579750	SCV005206462	likely benign	not provided		criteria provided, single submitter	not provided
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
PreventionGenetics, part of Exact Sciences	RCV003975164	SCV004791774	likely benign	PLA2G6-related disorder	2019-10-15	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).