ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5980A>G (p.Ile1994Val) (rs139640224)

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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 RCV000081905 SCV000113840 benign not specified 2012-09-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081905 SCV000249414 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001310637 SCV000714721 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16648375)
Invitae RCV000634137 SCV000755433 likely benign Cohen syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719257 SCV000850123 uncertain significance History of neurodevelopmental disorder 2018-04-19 criteria provided, single submitter clinical testing The p.I1994V variant (also known as c.5980A>G), located in coding exon 33 of the VPS13B gene, results from an A to G substitution at nucleotide position 5980. The isoleucine at codon 1994 is replaced by valine, an amino acid with highly similar properties. In one study, authors sequenced the VPS13B (also known as COH1) gene in individuals with Cohen syndrome. They identified this alteration in their cohort, but classified it as a polymorphism without further explanation (Seifert W et al. J. Med. Genet., 2006 May;43:e22). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Clinical Services Laboratory,Illumina RCV000634137 SCV001326102 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310637 SCV001500519 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000634137 SCV001653445 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing

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