ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) (rs777111154)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206563 SCV000259780 uncertain significance Fanconi anemia 2018-05-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 68 of the FANCC protein (p.Gly68Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs777111154, ExAC 0.02%) but has not been reported in the literature in individuals with a FANCC-related disease. ClinVar contains an entry for this variant (Variation ID: 219736). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001014138 SCV001174814 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing Insufficient evidence

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