ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.913C>T (p.His305Tyr)

gnomAD frequency: 0.00001  dbSNP: rs774054025
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001046595 SCV001210504 likely benign Fanconi anemia 2024-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973284 SCV005583401 uncertain significance Inborn genetic diseases 2024-12-08 criteria provided, single submitter clinical testing The p.H305Y variant (also known as c.913C>T), located in coding exon 11 of the FANCA gene, results from a C to T substitution at nucleotide position 913. The histidine at codon 305 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001046595 SCV002095083 uncertain significance Fanconi anemia 2020-02-26 no assertion criteria provided 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.