ClinVar Miner

Submissions for variant NC_000017.10:g.(?_78177655)_(78183100_?)del

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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 RCV003122637 SCV003793046 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-05-12 criteria provided, single submitter clinical testing This variant results in the deletion of exons 17-21 and part of exon 16 (c.2256_*958del) of the CARD14 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. 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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