ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.127G>A (p.Glu43Lys) (rs374836770)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160495 SCV000211060 uncertain significance not provided 2015-11-17 criteria provided, single submitter clinical testing This variant is denoted FANCC c.127G>A at the cDNA level, p.Glu43Lys (E43K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAG>AAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Glu43Lys was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Glutamic Acid and Lysine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Glu43Lys occurs at a position that is not conserved and is located in the region of interaction with NADPH: cytochrome c (P450) reductase (RED) (Gordon 2000). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether FANCC Glu43Lys is pathogenic or benign. We consider it to be a variant of uncertain significance.
Mendelics RCV000709096 SCV000838361 uncertain significance Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988226 SCV001137863 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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