ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) (rs1555507479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH 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 Institute Rare Disease Group, Broad Institute RCV000785961 SCV000924543 likely pathogenic Early infantile epileptic encephalopathy 17 2018-06-15 criteria provided, single submitter research The heterozygous p.Ala221Asp variant was identified by our study in one individual with early infantile epileptic encephalopathy. 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.

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