ClinVar Miner

Submissions for variant NM_000505.4(F12):c.41T>C (p.Leu14Ser)

gnomAD frequency: 0.00010  dbSNP: rs143809932
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
CeMIA RCV001263432 SCV001441469 likely benign Hereditary angioedema type 3 criteria provided, single submitter clinical testing The c.41T>C (p.Leu14Ser) variant, located in exon 1 of the F12 gene, was identified in a single type I C1-INH-HAE Bulgarian patient co-carrying a pathogenic frameshift mutation in SERPING1 gene. Bioinformatic analysis by SIFT and PolyPhen2 algorithms predicted deleterious and probably damaging, respectively. It has been detected in 0.01556% alleles worldwide (gnomAD database) and its allele frequency is greater than that expected for FXII-HAE. Taking all the above into account and according to ACMG Guidelines (Criteria: BS1, BP5) the variant is considered likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069380 SCV002416933 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035415 SCV004864911 uncertain significance Inborn genetic diseases 2023-11-03 criteria provided, single submitter clinical testing The c.41T>C (p.L14S) alteration is located in exon 1 (coding exon 1) of the F12 gene. This alteration results from a T to C substitution at nucleotide position 41, causing the leucine (L) at amino acid position 14 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.