Total submissions: 5
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, |
RCV002261272 | SCV002541446 | uncertain significance | not provided | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002264176 | SCV002543219 | uncertain significance | Autoinflammatory syndrome | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |
Ce |
RCV002261272 | SCV004146291 | uncertain significance | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | CARD14: PM2, BP4 |