ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1313G>A (p.Cys438Tyr)

gnomAD frequency: 0.00006  dbSNP: rs533044405
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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 RCV001922321 SCV002150944 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-07-19 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1382856). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs533044405, gnomAD 0.02%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 438 of the CARD14 protein (p.Cys438Tyr).
Ambry Genetics RCV004603056 SCV005102727 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.1313G>A (p.C438Y) alteration is located in exon 9 (coding exon 8) of the CARD14 gene. This alteration results from a G to A substitution at nucleotide position 1313, causing the cysteine (C) at amino acid position 438 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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