ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2593T>C (p.Ser865Pro)

gnomAD frequency: 0.00001  dbSNP: rs758596793
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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 RCV001945997 SCV002203640 uncertain significance Deficiency of ferroxidase 2021-01-08 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 865 of the CP protein (p.Ser865Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs758596793, ExAC 0.003%). This variant has not been reported in the literature in individuals with CP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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