ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1380T>A (p.Ser460Arg)

gnomAD frequency: 0.00003  dbSNP: rs766077998
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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 RCV001864817 SCV002123112 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-04-06 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 not expected to disrupt CARD14 protein function. ClinVar contains an entry for this variant (Variation ID: 1359851). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is present in population databases (rs766077998, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 460 of the CARD14 protein (p.Ser460Arg).
Ambry Genetics RCV004039706 SCV004920223 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.1380T>A (p.S460R) alteration is located in exon 10 (coding exon 9) of the CARD14 gene. This alteration results from a T to A substitution at nucleotide position 1380, causing the serine (S) at amino acid position 460 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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