ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys)

gnomAD frequency: 0.00001  dbSNP: rs281875217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037380 SCV001200791 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2020-06-21 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 sequence change replaces arginine with cysteine at codon 38 of the CARD14 protein (p.Arg38Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with psoriasis (PMID: 22521419). ClinVar contains an entry for this variant (Variation ID: 68775). This variant has been reported to affect CARD14 protein function (PMID: 22521419, 28230860).
UniProtKB/Swiss-Prot RCV000059692 SCV000091262 not provided not provided no assertion provided not provided

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