ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.8380C>T (p.Arg2794Trp)

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 RCV002927155 SCV003260874 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2794 of the HSPG2 protein (p.Arg2794Trp). This variant is present in population databases (rs755487807, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV002927155 SCV003811377 uncertain significance not provided 2019-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV005351041 SCV006016378 uncertain significance Inborn genetic diseases 2025-03-07 criteria provided, single submitter clinical testing The c.8380C>T (p.R2794W) alteration is located in exon 63 (coding exon 63) of the HSPG2 gene. This alteration results from a C to T substitution at nucleotide position 8380, causing the arginine (R) at amino acid position 2794 to be replaced by a tryptophan (W). 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.