ClinVar Miner

Submissions for variant NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)

gnomAD frequency: 0.00199  dbSNP: rs149037185
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262961 SCV000480750 likely 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 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 RCV001643117 SCV000844858 benign not specified 2020-10-05 criteria provided, single submitter clinical testing
Invitae RCV000714171 SCV001001597 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000714171 SCV001764526 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000262961 SCV002811445 likely benign Chorea-acanthocytosis 2021-11-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000714171 SCV004157842 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing VPS13A: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000262961 SCV000734705 likely benign Chorea-acanthocytosis no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000714171 SCV001808148 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000714171 SCV001973595 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000262961 SCV002078232 benign Chorea-acanthocytosis 2019-10-22 no assertion criteria provided clinical testing

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