ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1170C>A (p.Phe390Leu)

dbSNP: rs74951924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202131 SCV001373233 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2019-07-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CARD14-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 390 of the CARD14 protein (p.Phe390Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264218 SCV002543209 uncertain significance Autoinflammatory syndrome 2021-01-25 criteria provided, single submitter clinical testing

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