ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2900G>C (p.Gly967Ala)

gnomAD frequency: 0.00007  dbSNP: rs370673560
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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 RCV001929083 SCV002204452 uncertain significance Deficiency of ferroxidase 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 967 of the CP protein (p.Gly967Ala). This variant is present in population databases (rs370673560, gnomAD 0.02%). 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: 1423779). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CP protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002558497 SCV003643615 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.2900G>C (p.G967A) alteration is located in exon 17 (coding exon 17) of the CP gene. This alteration results from a G to C substitution at nucleotide position 2900, causing the glycine (G) at amino acid position 967 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004785390 SCV005401564 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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