ClinVar Miner

Submissions for variant NM_000096.4(CP):c.393G>A (p.Glu131=)

dbSNP: rs754943824
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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 RCV001896696 SCV002167759 uncertain significance Deficiency of ferroxidase 2020-12-03 criteria provided, single submitter clinical testing This sequence change affects codon 131 of the CP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CP protein. This variant is present in population databases (rs754943824, ExAC 0.001%). This variant has not been reported in the literature in individuals with CP-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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