ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)

gnomAD frequency: 0.00024  dbSNP: rs141324814
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174137 SCV000225383 uncertain significance not provided 2014-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317000 SCV000850615 likely benign Inborn genetic diseases 2017-04-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084527 SCV001107804 benign Cohen syndrome 2024-01-11 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084527 SCV001325462 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Pars Genome Lab RCV001084527 SCV001652885 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000174137 SCV001873838 likely benign not provided 2019-12-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818416 SCV002071431 likely benign not specified 2017-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000174137 SCV004158247 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003937555 SCV004753488 likely benign VPS13B-related disorder 2019-03-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001084527 SCV001466473 benign Cohen syndrome 2020-09-09 no assertion criteria provided clinical testing

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