ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.700T>C (p.Tyr234His)

gnomAD frequency: 0.00003  dbSNP: rs757434449
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 RCV001885457 SCV002113909 benign Ehlers-Danlos syndrome, classic type, 1 2022-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489949 SCV002790122 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416499 SCV004117727 uncertain significance COL5A1-related disorder 2022-09-21 criteria provided, single submitter clinical testing The COL5A1 c.700T>C variant is predicted to result in the amino acid substitution p.Tyr234His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-137619157-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII RCV002509707 SCV002819258 uncertain significance Confusion no assertion criteria provided clinical testing

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.