ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2677T>G (p.Leu893Val)

gnomAD frequency: 0.00001  dbSNP: rs769138783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877478 SCV002140145 uncertain significance Deficiency of ferroxidase 2021-08-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs769138783, ExAC 0.009%). This sequence change replaces leucine with valine at codon 893 of the CP protein (p.Leu893Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant has not been reported in the literature in individuals affected with CP-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV001877478 SCV003829923 uncertain significance Deficiency of ferroxidase 2022-04-01 criteria provided, single submitter clinical testing

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