ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) (rs201063698)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205771 SCV000259293 likely benign not provided 2019-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000120972 SCV000278974 uncertain significance not specified 2016-07-08 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1414G>A at the cDNA level, p.Gly472Arg (G472R) at the protein level, and results in the change of a Glycine to an Arginine (GGA>AGA). This variant was seen in 1/187 individuals with esophageal squamous cell carcinoma who were tested for variants in the genes of the Fanconi anemia pathway (Akbari 2011). FANCC Gly472Arg was not observed at significant allele frequency in 1000 Genomes. FANCC Gly472Arg was also identified in 1/50 healthy Central Asian individuals undergoing whole genome sequencing (Bodian 2014). Of note, the participants in this study were younger than 50 years old thus the unaffected status of this individual may not be significant. Since Glycine and Arginine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Gly472Arg occurs at a position that is not conserved and is not located in a known functional domain (Gordon 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether FANCC Gly472Arg is pathogenic or benign. We consider it to be a variant of uncertain significance.
ITMI RCV000120972 SCV000085140 not provided not specified 2013-09-19 no assertion provided reference population

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