ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.1385C>T (p.Thr462Met)

gnomAD frequency: 0.00035  dbSNP: rs368239982
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632914 SCV000754119 likely benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263864 SCV002543222 likely benign Autoinflammatory syndrome 2022-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533182 SCV003621335 uncertain significance Inborn genetic diseases 2022-09-28 criteria provided, single submitter clinical testing The c.1385C>T (p.T462M) 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 1385, causing the threonine (T) at amino acid position 462 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003411500 SCV004115026 uncertain significance CARD14-related disorder 2023-05-23 criteria provided, single submitter clinical testing The CARD14 c.1385C>T variant is predicted to result in the amino acid substitution p.Thr462Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-78169018-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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.