ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1526T>C (p.Val509Ala)

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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 RCV002577215 SCV002932793 uncertain significance Deficiency of ferroxidase 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 509 of the CP protein (p.Val509Ala). This variant is not present in population databases (gnomAD no frequency). 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. 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 RCV004612181 SCV005111593 uncertain significance Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing The c.1526T>C (p.V509A) alteration is located in exon 9 (coding exon 9) of the CP gene. This alteration results from a T to C substitution at nucleotide position 1526, causing the valine (V) at amino acid position 509 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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