ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1332+4dup

gnomAD frequency: 0.00001  dbSNP: rs886063674
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
Illumina Laboratory Services, Illumina RCV000376607 SCV000478525 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861347 SCV002267173 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-10-21 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the COL5A1 gene. It does not directly change the encoded amino acid sequence of the COL5A1 protein. It affects a nucleotide within the consensus splice site. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 365711). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).
Ambry Genetics RCV002379259 SCV002692927 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-05-17 criteria provided, single submitter clinical testing The c.1332+4dupA intronic variant results from a duplication of one A nucleotide at 4 nucleotides after coding exon 8 of the COL5A1 gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, 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.