Submissions for variant NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)

gnomAD frequency: 0.00207  dbSNP: rs144358567

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000714173	SCV000844860	likely benign	not provided	2018-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV000714173	SCV001003188	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169604	SCV001332347	likely benign	Chorea-acanthocytosis	2018-01-12	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.
Genome-Nilou Lab	RCV001169604	SCV001737315	benign	Chorea-acanthocytosis	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000714173	SCV001842035	benign	not provided	2019-05-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26870756)
CeGaT Center for Human Genetics Tuebingen	RCV000714173	SCV004157846	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	VPS13A: BS2
Natera, Inc.	RCV001169604	SCV001452760	benign	Chorea-acanthocytosis	2020-01-07	no assertion criteria provided	clinical testing