ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2827G>A (p.Glu943Lys)

gnomAD frequency: 0.00004  dbSNP: rs571448440
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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 RCV001312392 SCV001502845 uncertain significance Deficiency of ferroxidase 2022-11-21 criteria provided, single submitter clinical testing 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 not expected to disrupt CP protein function. ClinVar contains an entry for this variant (Variation ID: 1013751). This variant has not been reported in the literature in individuals affected with CP-related conditions. This variant is present in population databases (rs571448440, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 943 of the CP protein (p.Glu943Lys).
GeneDx RCV004783950 SCV005396804 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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