Submissions for variant NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)

gnomAD frequency: 0.00397  dbSNP: rs149694033

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000310297	SCV000480788	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.
Athena Diagnostics Inc	RCV000710282	SCV000616255	likely benign	not provided	2019-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000710282	SCV000620702	benign	not provided	2020-12-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000310297	SCV000897530	uncertain significance	Chorea-acanthocytosis	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000710282	SCV001000934	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710282	SCV001155658	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	VPS13A: BP4, BS2
Revvity Omics, Revvity	RCV000310297	SCV003820417	uncertain significance	Chorea-acanthocytosis	2019-01-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912583	SCV004735712	likely benign	VPS13A-related condition	2019-12-23	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000310297	SCV000734710	likely benign	Chorea-acanthocytosis		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000310297	SCV001457837	benign	Chorea-acanthocytosis	2020-01-02	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710282	SCV001800242	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001729570	SCV001809185	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710282	SCV001968026	likely benign	not provided		no assertion criteria provided	clinical testing