ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1356+5G>A

gnomAD frequency: 0.00006  dbSNP: rs376524884
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068599 SCV001233722 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2024-01-26 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the CARD14 gene. It does not directly change the encoded amino acid sequence of the CARD14 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs376524884, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with psoriasis vulgaris (PMID: 26358359). ClinVar contains an entry for this variant (Variation ID: 861971). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261272 SCV002541446 uncertain significance not provided 2021-07-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264176 SCV002543219 uncertain significance Autoinflammatory syndrome 2019-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413888 SCV004115373 uncertain significance CARD14-related disorder 2023-05-11 criteria provided, single submitter clinical testing The CARD14 c.1356+5G>A variant is predicted to interfere with splicing. This variant is predicted to impact a consensus splice site based on available splicing prediction programs (Alamut Visual v2.11). However, such computer prediction programs are imperfect. This variant was reported in a Tunisian individual with psoriasis (Ammar et al 2016. PubMed ID: 26358359). This variant is reported in 0.050% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-78166423-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV002261272 SCV004146291 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing CARD14: PM2, BP4

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