ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1534-5T>G (rs730881727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160491 SCV000211056 uncertain significance not provided 2018-02-23 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1534-5T>G or IVS14-5T>G and consists of a T>G nucleotide substitution at the -5 position of intron 14 of the FANCC gene. In-silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether FANCC c.1534-5T>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000532636 SCV000626239 uncertain significance Fanconi anemia 2017-05-12 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the FANCC gene. It does not directly change the encoded amino acid sequence of the FANCC protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCC-related disease. ClinVar contains an entry for this variant (Variation ID: 182490). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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