Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000626015 | SCV000746624 | likely pathogenic | Neurodevelopmental disorder with involuntary movements | 2016-12-01 | criteria provided, single submitter | clinical testing | This variant, which is de novo in our patient, is novel (absent from 1000 Genomes, ExAC, gnomAD & Geno2MP databases), and is predicted to be damaging (SIFT, PolyPhen2, MutationTaster), and the patient's clinical presentation is similar to other reported cases. This individual has been reported in PMID: 30682224 (patient 8). |
Broad Center for Mendelian Genomics, |
RCV000626015 | SCV000924543 | likely pathogenic | Neurodevelopmental disorder with involuntary movements | 2018-06-15 | criteria provided, single submitter | research | The heterozygous p.Ala221Asp variant was identified by our study, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the UDN, in one individual with neurodevelopmental disorder with involuntary movements. Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to definitively determine pathogenicity. In summary, although additional studies are required to fully establish its pathogenicity, this variant is likely pathogenic. |