ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.668T>C (p.Val223Ala) (rs751410815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196637 SCV000254263 uncertain significance Fanconi anemia 2018-09-05 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 223 of the FANCC protein (p.Val223Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs751410815, ExAC 0.08%). This variant has not been reported in the literature in individuals with FANCC-related disease. ClinVar contains an entry for this variant (Variation ID: 216290). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709089 SCV000838352 uncertain significance Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000709089 SCV000897537 uncertain significance Fanconi anemia, complementation group C 2018-10-31 criteria provided, single submitter clinical testing

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