ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1370C>T (p.Ser457Leu)

gnomAD frequency: 0.00010  dbSNP: rs776782295
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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 RCV000632893 SCV000754098 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 457 of the CARD14 protein (p.Ser457Leu). This variant is present in population databases (rs776782295, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CARD14-related conditions. ClinVar contains an entry for this variant (Variation ID: 527871). 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 with a negative predictive value of 80%. 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.
Ambry Genetics RCV003380648 SCV004088939 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.1370C>T (p.S457L) alteration is located in exon 10 (coding exon 9) of the CARD14 gene. This alteration results from a C to T substitution at nucleotide position 1370, causing the serine (S) at amino acid position 457 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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