Submissions for variant NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu)

gnomAD frequency: 0.00051  dbSNP: rs148104757

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000285138	SCV000458549	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321482	SCV000458550	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	RCV000285138	SCV000458551	likely benign	Wagner syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001041610	SCV001205234	likely benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022007	SCV004977758	uncertain significance	Inborn genetic diseases	2021-08-23	criteria provided, single submitter	clinical testing	The c.1931C>T (p.P644L) alteration is located in exon 7 (coding exon 6) of the VCAN gene. This alteration results from a C to T substitution at nucleotide position 1931, causing the proline (P) at amino acid position 644 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Genetics, Academic Medical Center	RCV001041610	SCV001925006	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001041610	SCV001975527	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902373	SCV004724614	likely benign	VCAN-related disorder	2023-03-28	no assertion criteria provided	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).