Submissions for variant NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)

dbSNP: rs150272676

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177803	SCV000229737	uncertain significance	not provided	2014-06-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356019	SCV000470816	likely benign	Cohen syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics	RCV002317039	SCV000850716	uncertain significance	Inborn genetic diseases	2017-05-31	criteria provided, single submitter	clinical testing	The p.R1939Q variant (also known as c.5816G>A), located in coding exon 33 of the VPS13B gene, results from a G to A substitution at nucleotide position 5816. The arginine at codon 1939 is replaced by glutamine, 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	RCV000356019	SCV001013502	likely benign	Cohen syndrome	2024-01-24	criteria provided, single submitter	clinical testing
Molecular Endocrinology Laboratory, Christian Medical College	RCV000356019	SCV002073507	uncertain significance	Cohen syndrome		criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947507	SCV004765988	likely benign	VPS13B-related disorder	2019-12-31	criteria provided, single submitter	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).
CeGaT Center for Human Genetics Tuebingen	RCV000177803	SCV005051621	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	VPS13B: BS2