ClinVar Miner

Submissions for variant NM_000096.4(CP):c.938C>T (p.Thr313Ile) (rs144401501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000326860 SCV000441650 uncertain significance Deficiency of ferroxidase 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000326860 SCV000960293 uncertain significance Deficiency of ferroxidase 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 313 of the CP protein (p.Thr313Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs144401501, ExAC 0.09%). This variant has not been reported in the literature in individuals with CP-related disease. ClinVar contains an entry for this variant (Variation ID: 343779). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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. 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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