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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