ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2005G>C (p.Gly669Arg)

gnomAD frequency: 0.00002  dbSNP: rs555339346
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299357 SCV001488443 uncertain significance Deficiency of ferroxidase 2020-10-07 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with CP-related conditions. This variant is present in population databases (rs555339346, ExAC 0.06%). This sequence change replaces glycine with arginine at codon 669 of the CP protein (p.Gly669Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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