ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2816C>G (p.Ser939Cys)

gnomAD frequency: 0.00001  dbSNP: rs781046060
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070179 SCV001235395 uncertain significance Deficiency of ferroxidase 2019-12-31 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 939 of the CP protein (p.Ser939Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.

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