Submissions for variant NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)

gnomAD frequency: 0.00007  dbSNP: rs141566041

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001248485	SCV001421973	likely benign	Cohen syndrome	2025-01-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001248485	SCV003820432	uncertain significance	Cohen syndrome	2022-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004967928	SCV005531705	uncertain significance	Inborn genetic diseases	2024-12-02	criteria provided, single submitter	clinical testing	The c.11219G>A (p.R3740Q) alteration is located in exon 58 (coding exon 57) of the VPS13B gene. This alteration results from a G to A substitution at nucleotide position 11219, causing the arginine (R) at amino acid position 3740 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV001248485	SCV002082785	uncertain significance	Cohen syndrome	2019-10-29	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003405455	SCV004114883	uncertain significance	VPS13B-related disorder	2024-05-30	no assertion criteria provided	clinical testing	The VPS13B c.11144G>A variant is predicted to result in the amino acid substitution p.Arg3715Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.037% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.