ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser)

gnomAD frequency: 0.00004  dbSNP: rs370321707
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200293 SCV000249815 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified independently and in conjunction with additional variants in individuals referred for genetic testing at GeneDx; segregation data is limited at this time; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22696272)
Illumina Laboratory Services, Illumina RCV000341052 SCV000478556 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229047 SCV000631489 benign Ehlers-Danlos syndrome, classic type, 1 2023-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165443 SCV003913573 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-08 criteria provided, single submitter clinical testing The p.P1083S variant (also known as c.3247C>T), located in coding exon 41 of the COL5A1 gene, results from a C to T substitution at nucleotide position 3247. The proline at codon 1083 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004748647 SCV005366965 uncertain significance COL5A1-related disorder 2024-03-25 no assertion criteria provided clinical testing The COL5A1 c.3247C>T variant is predicted to result in the amino acid substitution p.Pro1083Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.