Submissions for variant NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)

dbSNP: rs140936527

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175340	SCV000226811	pathogenic	not provided	2012-11-14	criteria provided, single submitter	clinical testing
Invitae	RCV002513840	SCV003440901	pathogenic	Cohen syndrome	2023-10-16	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser864*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with VPS13B-related conditions (PMID: 28041643). ClinVar contains an entry for this variant (Variation ID: 95840). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center	RCV002513840	SCV004100768	likely pathogenic	Cohen syndrome	2023-10-12	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM2_SUP
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000505106	SCV000598900	uncertain significance	Abnormality of the eye	2015-01-01	no assertion criteria provided	research