ClinVar Miner

Submissions for variant NM_004385.5(VCAN):c.5069A>G (p.Tyr1690Cys)

gnomAD frequency: 0.00006  dbSNP: rs138927784
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363595 SCV001559713 uncertain significance not provided 2024-12-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1690 of the VCAN protein (p.Tyr1690Cys). This variant is present in population databases (rs138927784, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with VCAN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054996). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003405610 SCV004114456 uncertain significance VCAN-related disorder 2023-03-16 criteria provided, single submitter clinical testing The VCAN c.5069A>G variant is predicted to result in the amino acid substitution p.Tyr1690Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including one homozygote (http://gnomad.broadinstitute.org/variant/5-82833891-A-G). 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.
Ambry Genetics RCV004036889 SCV004978164 uncertain significance Inborn genetic diseases 2023-11-02 criteria provided, single submitter clinical testing The c.5069A>G (p.Y1690C) alteration is located in exon 8 (coding exon 7) of the VCAN gene. This alteration results from a A to G substitution at nucleotide position 5069, causing the tyrosine (Y) at amino acid position 1690 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.