Submissions for variant NM_152564.5(VPS13B):c.7051-3dup

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002367446	SCV002664272	uncertain significance	Inborn genetic diseases	2018-05-21	criteria provided, single submitter	clinical testing	The c.7126-3dupT intronic variant results from a duplication of one nucleotide 3 nucleotides upstream from coding exon 39 of the VPS13B gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and Human Splicing Finder (HSF) splice site prediction tools, this alteration does not have any significant effect on the native splice acceptor site while ESEFinder predicts this alteration results in strengthening of a cryptic splice acceptor site ; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003098477	SCV002947696	likely benign	Cohen syndrome	2023-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004744354	SCV005343793	likely benign	VPS13B-related disorder	2024-01-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).