ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)

gnomAD frequency: 0.00006  dbSNP: rs369755459
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996619 SCV001151434 likely pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
New York Genome Center RCV000996619 SCV001815727 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing The c.681T>G, p.Tyr227Ter nonsense variant identified in the CARD14 gene has not been reported in the literature. This variant has eight heterozygotes in the gnomAD v3 database with a frequency of 0.005%, indicating this is a rare allele. In silico analysis predicts loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay (PMID: 27268795). Based on the available evidence, the nonsense variant c.681T>G, p.Tyr227Ter in the CARD14 gene is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869394 SCV002265139 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-09-01 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 808329). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs369755459, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Tyr227*) in the CARD14 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CARD14 cause disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264136 SCV002543327 uncertain significance Autoinflammatory syndrome 2017-02-24 criteria provided, single submitter clinical testing

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