ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) (rs149318176)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179212 SCV000231422 likely benign not specified 2015-02-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355552 SCV000470862 likely benign Cohen syndrome 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.
Invitae RCV000355552 SCV000630859 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718517 SCV000849381 likely benign History of neurodevelopmental disorder 2018-06-20 criteria provided, single submitter clinical testing Other strong data
Mendelics RCV000355552 SCV001137690 likely benign Cohen syndrome 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000859448 SCV001143638 likely benign not provided 2019-04-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000859448 SCV001155465 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000355552 SCV001190481 uncertain significance Cohen syndrome 2019-03-25 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 58 p.Arg3757Gln (c.11270G>A): This variant has not been reported in the literature but is present in 0.4% (108/26824) of South Asian alleles, including 2 homozygotes in the Genome Aggregation Database ( This variant is present in ClinVar (Variation ID:198013). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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