ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.880G>T (p.Val294Phe) (rs758549385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000215493 SCV000279632 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing This variant is denoted FANCC c.880G>T at the cDNA level, p.Val294Phe (V294F) at the protein level, and results in the change of a Valine to a Phenylalanine (GTT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Val294Phe was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Valine and Phenylalanine differ in some properties, this is considered a semi-conservative amino acid substitution. FANCC Val294Phe occurs at a position that is conserved across species and is located in the region of interaction with GRP94 and Hsp70 (Gordon 2000). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether FANCC Val294Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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