Submissions for variant NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro)

gnomAD frequency: 0.00072  dbSNP: rs146630369

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180247	SCV000232646	uncertain significance	not provided	2014-11-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361504	SCV000458705	benign	Vitreoretinopathy	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000307929	SCV000458706	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307929	SCV000458707	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000180247	SCV001028913	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003422077	SCV004117010	uncertain significance	VCAN-related disorder	2022-09-19	criteria provided, single submitter	clinical testing	The VCAN c.6767T>C variant is predicted to result in the amino acid substitution p.Leu2256Pro. One study suggests that this variant does not segregate with chronic central serous chorioretinopathy (reported as rs146630369, Schellevis et al. 2019. PubMed ID: 30724488). This variant is reported in 0.13% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-82835589-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV000180247	SCV004159065	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	VCAN: BS1, BS2