ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1058G>A (p.Arg353Gln)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004385867 SCV004867218 uncertain significance Inborn genetic diseases 2023-11-18 criteria provided, single submitter clinical testing The c.1124G>A (p.R375Q) alteration is located in exon 9 (coding exon 9) of the F7 gene. This alteration results from a G to A substitution at nucleotide position 1124, causing the arginine (R) at amino acid position 375 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM RCV004771549 SCV005382442 uncertain significance Congenital factor VII deficiency 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.1058G>A(p.Arg353Gln) in F7 gene has been reported as a polymorphic marker in individual(s) with F7 related disorders (Pushkov et al. 2011; Lane A et. al., 1996). The observed variant has allele frequency of 0.005% in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid Arg at position 353 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS). In the absence of another reportable variant in F7 gene, the molecular diagnosis is not confirmed.

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.