ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3599G>A (p.Arg1200His)

gnomAD frequency: 0.00001  dbSNP: rs775657304
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307851 SCV001497279 uncertain significance Cataract 18 2020-10-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs775657304, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 1200 of the FYCO1 protein (p.Arg1200His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant has not been reported in the literature in individuals with FYCO1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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