ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile)

gnomAD frequency: 0.00001  dbSNP: rs865872056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264582 SCV002543278 uncertain significance Autoinflammatory syndrome 2022-03-04 criteria provided, single submitter clinical testing
Invitae RCV003774813 SCV004574028 uncertain significance Pityriasis rubra pilaris; Psoriasis 2 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 860 of the CARD14 protein (p.Ser860Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1694236). 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 with a positive 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.

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