ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2762T>C (p.Leu921Pro)

dbSNP: rs1725565373
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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 RCV001337747 SCV001531360 uncertain significance Deficiency of ferroxidase 2020-08-22 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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. This variant has not been reported in the literature in individuals with CP-related conditions. This sequence change replaces leucine with proline at codon 921 of the CP protein (p.Leu921Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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