Submissions for variant NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del)

dbSNP: rs1057519183

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000415911	SCV000493496	uncertain significance	not provided	2016-07-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262673	SCV001440623	uncertain significance	Cohen syndrome	2019-01-01	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001262673	SCV002320674	uncertain significance	Cohen syndrome	2021-04-28	criteria provided, single submitter	clinical testing	VPS13B NM_017890.4 exon 37 p.Asp1838_Thr1842del (c.5513_5527del): This variant has not been reported in the literature but is present in 0.002% (2/68030) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-99642025-TTGACATATTTATTAC-T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:374644). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 5 amino acids at position 1838 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.