ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.505C>T (p.Gln169Ter)

dbSNP: rs1064794223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480025 SCV000568258 pathogenic not provided 2019-08-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23365099)
Illumina Laboratory Services, Illumina RCV003315243 SCV004014847 pathogenic Lissencephaly type 1 due to doublecortin gene mutation 2023-03-10 criteria provided, single submitter clinical testing The DCX c.505C>T (p.Gln169Ter) nonsense variant results in a premature termination of the protein at amino acid position 169. This variant is also known as c.748C>T (p.Gln250Ter) on NM_000555.3. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant has been reported in a de novo state in a 15-year-old with intellectual disability, autism, and subcortical band heterotopia (PMID: 23365099). The p.Gln169Ter variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.505C>T (p.Gln169Ter) variant is classified as pathogenic for lissencephaly spectrum disorders.

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.