ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2778dup (p.Val927fs)

dbSNP: rs2144608270
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937115 SCV002134669 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-11-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1363663). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val927Cysfs*47) in the CARD14 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acid(s) of the CARD14 protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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