ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) (rs111751379)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717784 SCV000848643 likely benign History of neurodevelopmental disorder 2016-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000513903 SCV000841644 likely benign not provided 2017-12-11 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000547888 SCV000899085 uncertain significance Cohen syndrome 2017-12-12 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 42 p.Glu2585Lys (c.7753G>A): This variant has not been reported in the literature but is present in 0.5% (646/126280) of European alleles, including 3 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs111751379). This variant is present in ClinVar, with several labs classifying this variant as likely benign or benign (Variation ID:95867). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513903 SCV000611049 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081914 SCV000113849 benign not specified 2012-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000081914 SCV000512679 likely benign not specified 2016-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081914 SCV000249420 likely benign not specified 2016-12-09 criteria provided, single submitter clinical testing
Invitae RCV000547888 SCV000630887 benign Cohen syndrome 2017-12-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081914 SCV000316202 likely benign not specified criteria provided, single submitter clinical testing

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