Submissions for variant NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)

gnomAD frequency: 0.00030  dbSNP: rs141637316

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194526	SCV000249404	uncertain significance	not specified	2015-03-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348314	SCV000470787	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.
Invitae	RCV000348314	SCV000630867	likely benign	Cohen syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317717	SCV000849726	likely benign	Inborn genetic diseases	2017-05-26	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.
Genome-Nilou Lab	RCV000348314	SCV001653473	likely benign	Cohen syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001706170	SCV001870047	likely benign	not provided	2019-05-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706170	SCV004158257	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	VPS13B: BP4, BP7
Natera, Inc.	RCV000348314	SCV001454823	likely benign	Cohen syndrome	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001706170	SCV001918322	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001706170	SCV001968180	likely benign	not provided		no assertion criteria provided	clinical testing