ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) (rs377294947)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169293 SCV000220611 likely pathogenic Fanconi anemia, complementation group C 2014-08-20 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000169293 SCV000894485 pathogenic Fanconi anemia, complementation group C 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000169293 SCV000695435 pathogenic Fanconi anemia, complementation group C 2017-08-14 criteria provided, single submitter clinical testing Variant summary: The FANCC c.65G>A (p.Trp22X) variant results in a premature termination codon, predicted to cause a truncated or absent FANCC protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.67delG/p.Asp23fsX23, c.1642C>T/p.Arg548X). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121148 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic FANCC variant (0.0017678). This variant has been reported in at least three patients with Fanconi Anemia. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic/likely pathogenic. Taken together, this variant is classified as pathogenic.

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