ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3G>T (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs1555581729
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
Counsyl RCV000671694 SCV000796695 likely pathogenic Fanconi anemia complementation group A 2017-12-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000671694 SCV000915739 uncertain significance Fanconi anemia complementation group A 2018-10-25 criteria provided, single submitter clinical testing The FANCA c.3G>T (p.Met1?) variant is a start-loss variant predicted to disrupt the initiator codon, and thus potentially may interfere with protein expression. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. Due to the potential impact on protein expression and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Fanconi anemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.