ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.760G>A (p.Ala254Thr)

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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 RCV002817679 SCV003602375 uncertain significance Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing The c.760G>A (p.A254T) alteration is located in exon 5 (coding exon 4) of the CARD14 gene. This alteration results from a G to A substitution at nucleotide position 760, causing the alanine (A) at amino acid position 254 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777803 SCV004573992 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-05-19 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. 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: 2275036). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 254 of the CARD14 protein (p.Ala254Thr).

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