Submissions for variant NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)

gnomAD frequency: 0.00016  dbSNP: rs147099791

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002316816	SCV000850568	uncertain significance	Inborn genetic diseases	2019-03-26	criteria provided, single submitter	clinical testing	The p.R2202H variant (also known as c.6605G>A), located in coding exon 36 of the VPS13B gene, results from a G to A substitution at nucleotide position 6605. The arginine at codon 2202 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001241463	SCV001414481	likely benign	Cohen syndrome	2024-01-17	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530089	SCV001744705	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001530089	SCV001800825	uncertain significance	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001241463	SCV002082612	uncertain significance	Cohen syndrome	2019-11-11	no assertion criteria provided	clinical testing