ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.2936G>T (p.Ser979Ile) (rs769453869)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462123 SCV000547833 uncertain significance Fanconi anemia 2016-09-28 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 979 of the FANCI protein (p.Ser979Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is not present in population databases (ExAC no frequency) and 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 novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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