ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4803del (p.Gly1602fs)

gnomAD frequency: 0.00002  dbSNP: rs760846085
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665833 SCV000790016 likely pathogenic Autosomal recessive Alport syndrome 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001038956 SCV001202459 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1602Alafs*13) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). This variant is present in population databases (rs760846085, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with steroid-resistant nephrotic syndrome (PMID: 28117080). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550931). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001038956 SCV005326238 pathogenic not provided 2023-07-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32652570, 33040356, 37163122, 33712733, 28117080)
Fulgent Genetics, Fulgent Genetics RCV005027781 SCV005656161 pathogenic Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-04-30 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000786975 SCV000925880 pathogenic Autosomal dominant Alport syndrome 2018-10-30 no assertion criteria provided clinical testing
Natera, Inc. RCV001835073 SCV002076442 pathogenic Alport syndrome 2021-01-22 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.