Submissions for variant NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)

gnomAD frequency: 0.00103  dbSNP: rs141528779

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000399518	SCV000480781	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Athena Diagnostics	RCV000517325	SCV000616253	likely benign	not specified	2016-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862888	SCV001003453	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000862888	SCV002575942	likely benign	not provided	2021-06-08	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000862888	SCV004157849	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	VPS13A: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000862888	SCV001808238	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000862888	SCV001967927	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000399518	SCV002078260	benign	Chorea-acanthocytosis	2019-10-21	no assertion criteria provided	clinical testing