ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1502G>A (p.Gly501Asp) (rs536599109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487343 SCV000571864 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1502G>A at the cDNA level, p.Gly501Asp (G501D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGC>GAC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Gly501Asp was observed with an allele frequency of 0.1% (1/1008) in the East Asian populations in 1000 Genomes. Since Glycine and Aspartic Acid differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Gly501Asp occurs at a position where amino acids with properties similar to Glycine are tolerated across species and is located in the cdc2 binding region (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 Gly501Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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