ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp)

dbSNP: rs201379514
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002240305 SCV001209609 benign Ehlers-Danlos syndrome, classic type, 1 2024-11-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509380 SCV001716056 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing BS1, PP3
GeneDx RCV001509380 SCV002007210 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408661 SCV006071805 uncertain significance not specified 2025-03-28 criteria provided, single submitter clinical testing Variant summary: COL5A1 c.5194C>T (p.Arg1732Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.8e-05 in 249936 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5194C>T in individuals affected with Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 843180). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.