ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.665C>T (p.Thr222Ile)

dbSNP: rs1603423268
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000984506 SCV001132562 likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation 2018-11-15 criteria provided, single submitter research The hemizygous p.Thr303Ile variant in DCX was identified by our study in one individual with Lissencephaly. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.

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