ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.723+9C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003081423 SCV003462879 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-04-14 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224641 SCV003920016 uncertain significance Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 2022-10-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.007% (5/68050) (https://gnomad.broadinstitute.org/variant/16-56336869-C-T?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Splice prediction tools do not suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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