ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.104G>A (p.Cys35Tyr)

dbSNP: rs143212932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042157 SCV001205823 uncertain significance Fanconi anemia 2019-12-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with FANCC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 35 of the FANCC protein (p.Cys35Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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