ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.113G>A (p.Arg38Gln)

gnomAD frequency: 0.00010  dbSNP: rs773107370
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000984471 SCV000999003 uncertain significance Thrombophilia due to protein C deficiency, autosomal recessive 2019-09-13 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 3 of the PROC gene that results in the amino acid substitution of Glutamine for Arginine at codon 38 was detected. The observed variant c.113G>A (p.Arg38Gln) has not been reported in the 1000 genomes database and has a minor allele frequency of 0.006% in the ExAC database. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by SIFT and MutationTaster2. The reference codon is conserved across mammals.
Fulgent Genetics, Fulgent Genetics RCV002488071 SCV002776959 uncertain significance Thrombophilia due to protein C deficiency, autosomal recessive; Thrombophilia due to protein C deficiency, autosomal dominant 2021-07-01 criteria provided, single submitter 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.