ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) (rs1554835099)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522448 SCV000616714 uncertain significance not provided 2017-04-17 criteria provided, single submitter clinical testing This variant is denoted FANCC c.739C>T at the cDNA level, p.Leu247Phe (L247F) at the protein level, and results in the change of a Leucine to a Phenylalanine (CTT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Leu247Phe was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Leucine and Phenylalanine share similar properties, this is considered a conservative amino acid substitution. FANCC Leu247Phe occurs at a position that is conserved across species and is located within the GRP94 and Hsp70 binding domains (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 Leu247Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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