ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1091C>T (p.Ala364Val)

gnomAD frequency: 0.00014  dbSNP: rs141698692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510633 SCV001717724 benign Pityriasis rubra pilaris; Psoriasis 2 2022-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264112 SCV002543600 likely benign Autoinflammatory syndrome 2018-07-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424499 SCV004116896 uncertain significance CARD14-related disorder 2023-10-03 criteria provided, single submitter clinical testing The CARD14 c.1091C>T variant is predicted to result in the amino acid substitution p.Ala364Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.39% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-78165123-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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