ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)

gnomAD frequency: 0.00582  dbSNP: rs138687767
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361066 SCV000480769 benign Chorea-acanthocytosis 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000861599 SCV001001967 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000361066 SCV001737184 benign Chorea-acanthocytosis 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000861599 SCV001820063 likely benign not provided 2021-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861599 SCV004032854 benign not provided 2024-01-01 criteria provided, single submitter clinical testing VPS13A: BP4, BP7, BS1, BS2
Natera, Inc. RCV000361066 SCV001457823 benign Chorea-acanthocytosis 2019-11-11 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579361 SCV001806923 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000861599 SCV001976038 likely benign not provided no assertion criteria provided clinical testing

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