Submissions for variant NM_152564.5(VPS13B):c.3083-8G>A

gnomAD frequency: 0.00014  dbSNP: rs201973611

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768363	SCV000899079	uncertain significance	Cohen syndrome	2021-03-30	criteria provided, single submitter	clinical testing	VPS13B NM_017890.4 exon 22 c.3083-8G>A: This variant has not been reported in the literature but is present in 26/126514 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs201973611). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000768363	SCV001098201	likely benign	Cohen syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000768363	SCV001320578	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.
New York Genome Center	RCV000768363	SCV003925080	uncertain significance	Cohen syndrome	2022-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003432763	SCV004158258	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	VPS13B: BP4
Natera, Inc.	RCV000768363	SCV001456260	likely benign	Cohen syndrome	2020-06-05	no assertion criteria provided	clinical testing