ClinVar Miner

Submissions for variant NM_000096.4(CP):c.82A>T (p.Ile28Phe)

dbSNP: rs386134121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034885 SCV003525464 uncertain significance Deficiency of ferroxidase 2022-04-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 28 of the CP protein (p.Ile28Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypoceruloplasminemia (PMID: 10997552). This variant is also known as I9F. ClinVar contains an entry for this variant (Variation ID: 42057). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CP protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CP function (PMID: 16775387, 19095659). 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.
GeneReviews RCV000034885 SCV000058491 pathologic Deficiency of ferroxidase 2013-04-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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