ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.708G>A (p.Met236Ile) (rs587779907)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115359 SCV000149268 uncertain significance not provided 2013-12-24 criteria provided, single submitter clinical testing This variant is denoted FANCC c.708G>A at the cDNA level, p.Met236Ile (M236I) at the protein level, and results in the change of a Methionine to an Isoleucine (ATG>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Met236Ile 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. This variant is a conservative substitution of one neutral non-polar amino acid for another, altering a position that is highly variable throughout evolution and is not located in a known functional domain. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on the currently available information, we consider FANCC Met236Ile to be a variant of uncertain significance.

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