ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.-2A>G

gnomAD frequency: 0.00001  dbSNP: rs773045474
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 RCV000199622 SCV000255258 uncertain significance Fanconi anemia 2022-04-19 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the FANCC gene. It does not change the encoded amino acid sequence of the FANCC protein. This variant is present in population databases (rs773045474, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 216858). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002433892 SCV002748618 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-31 criteria provided, single submitter clinical testing The c.-2A>G variant is located in the 5' untranslated region (5’ UTR) of the FANCC gene. This variant results from an A to G substitution 2 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000199622 SCV002081324 uncertain significance Fanconi anemia 2020-09-18 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.