ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1679G>A (p.Arg560Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002788775 SCV003585807 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1679G>A (p.R560K) alteration is located in exon 13 (coding exon 12) of the CARD14 gene. This alteration results from a G to A substitution at nucleotide position 1679, causing the arginine (R) at amino acid position 560 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777761 SCV004596793 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2022-12-04 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CARD14 protein function. This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs748588108, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 560 of the CARD14 protein (p.Arg560Lys).

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