ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1811C>A (p.Pro604His)

gnomAD frequency: 0.00053  dbSNP: rs188643164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224141 SCV001396324 uncertain significance Deficiency of ferroxidase 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 604 of the CP protein (p.Pro604His). This variant is present in population databases (rs188643164, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with CP-related conditions. ClinVar contains an entry for this variant (Variation ID: 952095). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004695223 SCV005189834 uncertain significance not provided criteria provided, single submitter not provided
Fulgent Genetics, Fulgent Genetics RCV001224141 SCV005664949 uncertain significance Deficiency of ferroxidase 2024-04-30 criteria provided, single submitter clinical testing

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