ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu) (rs1064793496)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478964 SCV000566254 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1633A>G at the cDNA level, p.Lys545Glu (K545E) at the protein level, and results in the change of a Lysine to a Glutamic Acid (AAA>GAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Lys545Glu was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Lysine and Glutamic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Lys545Glu occurs at a position that is not conserved across species and is located within the cdc2 binding domain (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 Lys545Glu is pathogenic or benign. We consider it to be a variant of uncertain significance.

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