ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1437dup (p.Ser480fs)

dbSNP: rs780143594
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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 RCV002962023 SCV003279686 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-03-17 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. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs780143594, gnomAD 0.04%). This sequence change creates a premature translational stop signal (p.Ser480Glnfs*38) 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.

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