ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)

gnomAD frequency: 0.00016  dbSNP: rs201147123
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192996 SCV000249408 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313736 SCV000470758 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 RCV000313736 SCV001013511 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453713 SCV002613390 likely benign Inborn genetic diseases 2018-04-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003907710 SCV004721214 benign VPS13B-related disorder 2019-10-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000313736 SCV001461790 benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing
Dr.Nikuei Genetic Center RCV000313736 SCV005061754 benign Cohen syndrome no assertion criteria provided clinical testing

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