ClinVar Miner

Submissions for variant NC_000017.10:g.(?_78180679)_(78182040_?)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 RCV004579974 SCV005065249 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-11-23 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant results in the deletion of exon 20 and part of exon 21 (c.2692-90_2911del) 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.

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