ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His)

gnomAD frequency: 0.00004  dbSNP: rs144032875
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711934 SCV000842345 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711934 SCV002225064 uncertain significance not provided 2024-05-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2118 of the HSPG2 protein (p.Arg2118His). This variant is present in population databases (rs144032875, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 585998). 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.
Revvity Omics, Revvity RCV000711934 SCV003811913 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026817 SCV004884463 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.6353G>A (p.R2118H) alteration is located in exon 49 (coding exon 49) of the HSPG2 gene. This alteration results from a G to A substitution at nucleotide position 6353, causing the arginine (R) at amino acid position 2118 to be replaced by a histidine (H). 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.