ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1633A>C (p.Lys545Gln) (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 RCV000484214 SCV000567203 uncertain significance not provided 2015-07-15 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1633A>C at the cDNA level, p.Lys545Gln (K545Q) at the protein level, and results in the change of a Lysine to a Glutamine (AAA>CAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Lys545Gln 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 Lysine and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. FANCC Lys545Gln occurs at a position that is not conserved, with Glutamine being the naturally occurring amino acid at this position in one vertebrate, and is not located in a known functional domain (UniProt). 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 Lys545Gln is pathogenic or benign. We consider it to be a variant of uncertain significance.

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