Submissions for variant NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His)

gnomAD frequency: 0.00001  dbSNP: rs376291996

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001212585	SCV001384173	uncertain significance	Cohen syndrome	2021-08-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003480995	SCV004224208	uncertain significance	not provided	2022-12-19	criteria provided, single submitter	clinical testing	BP1
Ambry Genetics	RCV004678997	SCV005174725	uncertain significance	Inborn genetic diseases	2024-04-04	criteria provided, single submitter	clinical testing	The c.9267G>C (p.Q3089H) alteration is located in exon 51 (coding exon 50) of the VPS13B gene. This alteration results from a G to C substitution at nucleotide position 9267, causing the glutamine (Q) at amino acid position 3089 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV001212585	SCV002082704	uncertain significance	Cohen syndrome	2020-07-22	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004743328	SCV005341767	uncertain significance	VPS13B-related disorder	2024-03-29	no assertion criteria provided	clinical testing	The VPS13B c.9192G>C variant is predicted to result in the amino acid substitution p.Gln3064His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.