ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.17T>C (p.Leu6Ser) (rs369268726)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000398337 SCV000394172 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000398337 SCV000547842 uncertain significance Fanconi anemia 2016-10-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 6 of the FANCI protein (p.Leu6Ser). The leucine residue is moderately conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs369268726, ExAC 0.009%) but has not been reported in the literature in individuals with a FANCI-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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