ClinVar Miner

Submissions for variant GRCh37/hg19 14q21.1(chr14:39615245-39625047)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.

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