Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270650 | SCV001451381 | likely pathogenic | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | This CNV is an approximately 10 kb deletion of 14q21.1, on chromosome 14, (seq[GRCh37]del(14)(q21.1); chr14:g.39615245_39625047del) which is inherited. This CNV constitutes a loss encompassing exons 4-6 of the TRAPPC6 gene. While other loss of function variants have been reported in this gene in association with TRAPPC6-related neurodevelopmental disorders, no CNVs have been reported in the literature (Nair et al. 2020). The CNV is absent from the Genome Aggregation Database and the Database of Genomic Variants (DGV) (MacDonald et al. 2014). Based on the evidence, this CNV is classified as likely pathogenic. |