ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)

gnomAD frequency: 0.00820  dbSNP: rs61753721
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081886 SCV000113821 benign not specified 2013-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081886 SCV000316191 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000417740 SCV000510907 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083808 SCV000630865 benign Cohen syndrome 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000417740 SCV000841629 likely benign not provided 2017-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311679 SCV000846210 benign Inborn genetic diseases 2017-04-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV001083808 SCV001325571 benign Cohen syndrome 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000417740 SCV001889822 benign not provided 2018-08-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16648375, 19006247)
CeGaT Center for Human Genetics Tuebingen RCV000417740 SCV004032822 benign not provided 2024-07-01 criteria provided, single submitter clinical testing VPS13B: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000417740 SCV005223945 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000081886 SCV000153486 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000417740 SCV001798975 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081886 SCV001952257 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000417740 SCV001970095 likely benign not provided no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000417740 SCV002074826 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.
Natera, Inc. RCV001083808 SCV002079514 benign Cohen syndrome 2019-12-06 no assertion criteria provided clinical testing

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