ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1900C>A (p.Leu634Ile)

gnomAD frequency: 0.00001  dbSNP: rs200864206
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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 RCV000815930 SCV000956410 uncertain significance Deficiency of ferroxidase 2022-02-09 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 659000). This variant has not been reported in the literature in individuals affected with CP-related conditions. This variant is present in population databases (rs200864206, gnomAD 0.03%). This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 634 of the CP protein (p.Leu634Ile).
Ambry Genetics RCV002534878 SCV003750607 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.1900C>A (p.L634I) alteration is located in exon 11 (coding exon 11) of the CP gene. This alteration results from a C to A substitution at nucleotide position 1900, causing the leucine (L) at amino acid position 634 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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