ClinVar Miner

Submissions for variant NM_000587.4(C7):c.1924_1925del (p.His643fs)

dbSNP: rs764871530
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
GeneDx RCV000356915 SCV000330020 pathogenic not provided 2024-09-19 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; This variant is associated with the following publications: (PMID: 15554930, 31589614)
Labcorp Genetics (formerly Invitae), Labcorp RCV000356915 SCV002225017 pathogenic not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His643Profs*10) in the C7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in C7 are known to be pathogenic (PMID: 9856499, 17407100). This variant is present in population databases (rs764871530, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with C7 deficiency: (PMID: 15554930). This variant is also known as 1924delAG; S620 X 630. ClinVar contains an entry for this variant (Variation ID: 280140). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002259331 SCV002807803 pathogenic Complement component 7 deficiency 2021-12-04 criteria provided, single submitter clinical testing
OMIM RCV002259331 SCV000033134 pathogenic Complement component 7 deficiency 2006-06-01 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.