ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.860A>G (p.His287Arg) (rs76486610)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481958 SCV000572435 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing This variant is denoted FANCC c.860A>G at the cDNA level, p.His287Arg (H287R) at the protein level, and results in the change of a Histidine to an Arginine (CAC>CGC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC His287Arg 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 Histidine and Arginine share similar properties, this is considered a conservative amino acid substitution. FANCC His287Arg occurs at a position that is not conserved and is located in the regions 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 His287Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.

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