ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3662G>A (p.Arg1221His)

gnomAD frequency: 0.00004  dbSNP: rs375376263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207761 SCV001379127 uncertain significance Cataract 18 2019-07-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1221 of the FYCO1 protein (p.Arg1221His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs375376263, ExAC 0.01%). This variant has not been reported in the literature in individuals with FYCO1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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