ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)

gnomAD frequency: 0.00532  dbSNP: rs149840356
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517261 SCV000616250 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000517261 SCV001001037 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000517261 SCV001155657 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing VPS13A: BP4, BS2
Illumina Laboratory Services, Illumina RCV000605550 SCV001329692 benign Chorea-acanthocytosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Baylor Genetics RCV000605550 SCV001525987 uncertain significance Chorea-acanthocytosis 2018-07-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000517261 SCV001865479 benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605550 SCV000734709 likely benign Chorea-acanthocytosis no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580041 SCV001809460 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000517261 SCV001974828 likely benign not provided no assertion criteria provided clinical testing

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