ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3713C>A (p.Ser1238Ter)

dbSNP: rs121912859
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
Fulgent Genetics, Fulgent Genetics RCV002496408 SCV002813301 pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-03-26 criteria provided, single submitter clinical testing
Invitae RCV002513114 SCV003524928 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 17405). This variant is also known as a "substitution of A for C" that "replaces a serine codon with a stop codon". This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 7987396). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1238*) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543).
OMIM RCV000018948 SCV000039235 pathogenic Autosomal recessive Alport syndrome 1997-01-01 no assertion criteria provided literature only

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.