Submissions for variant NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)

gnomAD frequency: 0.00213  dbSNP: rs41289967

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV001644621	SCV000616249	likely benign	not specified	2020-10-05	criteria provided, single submitter	clinical testing
Invitae	RCV000516281	SCV001001598	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000616896	SCV001329691	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.
GeneDx	RCV000516281	SCV001781955	likely benign	not provided	2021-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000516281	SCV004157847	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	VPS13A: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003905310	SCV004723954	likely benign	VPS13A-related condition	2021-03-01	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	RCV000616896	SCV000734708	likely benign	Chorea-acanthocytosis		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000616896	SCV001457830	benign	Chorea-acanthocytosis	2019-11-11	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000516281	SCV001807987	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000516281	SCV001971469	likely benign	not provided		no assertion criteria provided	clinical testing