ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro)

gnomAD frequency: 0.00001  dbSNP: rs754405150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264583 SCV002543281 uncertain significance Autoinflammatory syndrome 2022-03-14 criteria provided, single submitter clinical testing
Invitae RCV003095927 SCV003014398 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-02-12 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs754405150, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 880 of the CARD14 protein (p.Ser880Pro).

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