ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.-2A>G (rs773045474)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199622 SCV000255258 uncertain significance Fanconi anemia 2015-04-03 criteria provided, single submitter clinical testing This sequence change falls in Intron 1 of the FANCC gene. It is located 2 nucleotides upstream of the translation initiation codon in Exon 2. Exon 1 of the FANCC gene is non-coding. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant shifts the splice site by 1 nucleotide upstream, but this prediction has not been confirmed by published transcriptional studies. In summary, the effects of this novel variant on RNA processing and protein coding are uncertain. Therefore it has been classified as a Variant of Uncertain Significance.

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