ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.998T>C (p.Leu333Pro) (rs864622191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204426 SCV000259627 uncertain significance Fanconi anemia 2015-07-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 333 of the FANCC protein (p.Leu333Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases and has not been published in the literature. 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: "Probably Damaging"; Align-GVGD: "Class C0"). However, the proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 RCV001019959 SCV001181379 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-23 criteria provided, single submitter clinical testing Insufficient evidence

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