Submissions for variant NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)

gnomAD frequency: 0.00144  dbSNP: rs138661755

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000260271	SCV000470783	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.
Genetic Services Laboratory, University of Chicago	RCV000502307	SCV000597883	likely benign	not specified	2016-12-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710110	SCV000616268	benign	not provided	2018-04-16	criteria provided, single submitter	clinical testing
Invitae	RCV000260271	SCV000755430	benign	Cohen syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311431	SCV000847148	likely benign	Inborn genetic diseases	2016-08-17	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.
Eurofins Ntd Llc (ga)	RCV000502307	SCV000863269	benign	not specified	2018-09-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000710110	SCV000969102	likely benign	not provided	2018-05-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV000260271	SCV001653403	likely benign	Cohen syndrome	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710110	SCV002063202	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	VPS13B: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003932490	SCV004755427	benign	VPS13B-related disorder	2019-09-18	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).
Clinical Genetics, Academic Medical Center	RCV000710110	SCV001925104	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000502307	SCV001927831	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000710110	SCV001966389	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000260271	SCV002079529	benign	Cohen syndrome	2019-10-22	no assertion criteria provided	clinical testing