ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile)

gnomAD frequency: 0.00001  dbSNP: rs150218695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532319 SCV000645146 uncertain significance Cataract 18 2017-02-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 211 of the FYCO1 protein (p.Thr211Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs150218695, ExAC 0.009%) but has not been reported in the literature in individuals with a FYCO1-related disease. 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. 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").

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