ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.938C>T (p.Ala313Val) (rs730881712)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160471 SCV000211036 uncertain significance not provided 2014-10-09 criteria provided, single submitter clinical testing This variant is denoted FANCC c.938C>T at the cDNA level, p.Ala313Val (A313V) at the protein level, and results in the change of an Alanine to a Valine (GCC>GTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Ala313Val 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 Alanine and Valine share similar properties, this is considered a conservative amino acid substitution. FANCC Ala313Val occurs at a position that is moderately conserved among mammals and is located within the Hsp70 interacting domain (Gordon and Buchwald). 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 Ala313Val is pathogenic or benign. We consider it to be a variant of uncertain significance.

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