ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2681T>C (p.Ile894Thr)

gnomAD frequency: 0.00006  dbSNP: rs148809294
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791615 SCV000930873 uncertain significance Deficiency of ferroxidase 2018-10-30 criteria provided, single submitter clinical testing 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 (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. This variant has not been reported in the literature in individuals with CP-related disease. This variant is present in population databases (rs148809294, ExAC 0.03%). This sequence change replaces isoleucine with threonine at codon 894 of the CP protein (p.Ile894Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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