ClinVar Miner

Submissions for variant NM_000096.4(CP):c.921G>T (p.Lys307Asn)

gnomAD frequency: 0.00006  dbSNP: rs543777038
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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 RCV002037291 SCV002115408 uncertain significance Deficiency of ferroxidase 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 307 of the CP protein (p.Lys307Asn). This variant is present in population databases (rs543777038, gnomAD 0.003%). 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: 1345438). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004038716 SCV004850077 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.921G>T (p.K307N) alteration is located in exon 5 (coding exon 5) of the CP gene. This alteration results from a G to T substitution at nucleotide position 921, causing the lysine (K) at amino acid position 307 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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