Submissions for variant NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)

gnomAD frequency: 0.00691  dbSNP: rs138683183

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147320	SCV000194693	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094906	SCV000438642	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000344059	SCV000756342	benign	Infantile neuroaxonal dystrophy	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000658941	SCV000780743	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	PLA2G6: BP4, BP7, BS2
GeneDx	RCV000658941	SCV001867402	benign	not provided	2019-01-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21812034)
Breakthrough Genomics, Breakthrough Genomics	RCV000658941	SCV005206451	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000658941	SCV001807780	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000147320	SCV001924110	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000147320	SCV001971804	benign	not specified		no assertion criteria provided	clinical testing