ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.479_482dup (p.Leu162fs)

dbSNP: rs2147263186
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002272910 SCV002557371 pathogenic Subcortical band heterotopia 2022-09-02 criteria provided, single submitter clinical testing A suspected mosaic frameshift duplication variant was identified, NM_178151.2(DCX):c.479_482dup in exon 3 of 7 of the DCX gene. This duplication is predicted to cause a frameshift starting at position 162, NP_835364.1(DCX):p.(Leu162Valfs*4), resulting in a loss of normal protein function through nonsense-mediated decay (NMD). The variant is not present in the gnomAD population database. The variant has not previously been reported in clinical cases, however, other variants predicted to cause NMD, both germline and somatic, have been reported as pathogenic in individuals with lissencephaly and subcortical laminal heterotopia (ClinVar, Gleeson, J. et al. (2000), Jamuar, S. et al. (2014), González-Morón, D. et al. (2017)). Based on information available at the time of curation, this variant has been classified as PATHOGENIC.

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