ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.823C>T (p.Arg275Cys)

gnomAD frequency: 0.00002  dbSNP: rs752302933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264592 SCV002543333 uncertain significance Autoinflammatory syndrome 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV003095931 SCV003011086 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-01-14 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CARD14 protein function. ClinVar contains an entry for this variant (Variation ID: 1694246). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs752302933, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 275 of the CARD14 protein (p.Arg275Cys).
Ambry Genetics RCV003164378 SCV003907899 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.823C>T (p.R275C) alteration is located in exon 5 (coding exon 4) of the CARD14 gene. This alteration results from a C to T substitution at nucleotide position 823, causing the arginine (R) at amino acid position 275 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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