ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2458C>T (p.Arg820Trp)

gnomAD frequency: 0.39960  dbSNP: rs11652075
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454417 SCV000538582 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001516553 SCV001724849 benign Pityriasis rubra pilaris; Psoriasis 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001539478 SCV001757262 benign not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27706581, 26249641, 31994212, 23905699, 26854129, 30018619, 23143594)
Genome-Nilou Lab RCV001554351 SCV001775573 benign Pityriasis rubra pilaris 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554352 SCV001775574 benign Psoriasis 2 2021-07-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263690 SCV002543272 benign Autoinflammatory syndrome 2022-01-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001554351 SCV004032434 likely pathogenic Pityriasis rubra pilaris 2024-02-21 criteria provided, single submitter clinical testing CARD14 is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Potent mutations in Card14 have been shown to be associated with familial pustular psoriasis and other cutaneous inflammatory conditions like Pytriasis rubra pilaris. Sufficient evidence is found to confer the association of this particular variant rs11652075 with psoriasis.This variant is found to be a potent moderate impact, deleterious variant with a CADD score of 20.9 and sufficient scientific evidence to support the reported classification. This is found more frequently in psoriasis as per recent evidence as well.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000454417 SCV004102017 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 60% of patients studied by a panel of primary immunodeficiencies. Number of patients: 58. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001539478 SCV002074582 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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