ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) (rs781542763)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169411 SCV000220815 likely pathogenic Fanconi anemia, complementation group C 2014-10-17 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169411 SCV000919322 pathogenic Fanconi anemia, complementation group C 2018-09-20 criteria provided, single submitter clinical testing Variant summary: FANCC c.520C>T (p.Arg174X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. 5/5 computational tools predict no significant impact on normal splicing, however one publication reports the variant to result in skipping of exon 6 (LoTen Foe_1998). The variant allele was found at a frequency of 1.6e-05 in 245902 control chromosomes (gnomAD). The variant, c.520C>T, has been reported in the literature in one individual affected with Fanconi Anemia Group C (LoTen Foe_1998). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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