ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)

gnomAD frequency: 0.00116  dbSNP: rs61754109
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723771 SCV000113817 uncertain significance not provided 2015-04-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194373 SCV000249401 uncertain significance not specified 2015-07-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000403642 SCV000470771 uncertain significance Cohen syndrome 2018-01-12 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.
Fulgent Genetics, Fulgent Genetics RCV000403642 SCV000611528 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000403642 SCV000755438 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313808 SCV000849156 likely benign Inborn genetic diseases 2017-04-17 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.
Athena Diagnostics RCV000723771 SCV001143640 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000403642 SCV001652752 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000723771 SCV001793938 likely benign not provided 2019-09-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25502226)
CeGaT Center for Human Genetics Tuebingen RCV000723771 SCV002063201 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing VPS13B: BP4, BS2
Clinical Genetics, Academic Medical Center RCV000723771 SCV001925677 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000723771 SCV001929811 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723771 SCV001963668 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000403642 SCV002079487 benign Cohen syndrome 2019-10-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003982881 SCV004796452 likely benign VPS13B-related disorder 2022-01-18 no assertion criteria provided 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).

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