Total submissions: 4
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, |
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. |
Prevention |
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. |