ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) (rs143181565)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571755 SCV000673297 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000160481 SCV000211046 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is denoted FANCC c.817G>A at the cDNA level, p.Glu273Lys (E273K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAA>AAA). This variant, also denoted 1072G>A, has been observed in 1/421 pancreatic cancer cases and 3/654 controls with no personal history of colon or pancreatic cancer (Couch 2005). FANCC Glu273Lys was observed at an allele frequency of 0.02% (28/126,662) in individuals of European ancestry in large population cohorts (Lek 2016). FANCC Glu273Lys is located in the region of interaction with GRP94 and Hsp70 (Gordon 2000). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether FANCC Glu273Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000198500 SCV000254264 likely benign Fanconi anemia 2017-12-15 criteria provided, single submitter clinical testing
Mendelics RCV000709088 SCV000838351 uncertain significance Fanconi anemia, complementation group C 2018-07-02 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.