ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4282-10C>G

dbSNP: rs369145855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514207 SCV000609692 uncertain significance not provided 2017-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084114 SCV001008747 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-27 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002060185 SCV002495949 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 2021-01-20 criteria provided, single submitter clinical testing SCN8A NM_014191.3 intron 23 c.4282-10C>G: This variant has not been reported in the literature but is present in 0.01% (8/68036) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-51789271-C-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:445379). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224303 SCV003920456 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2021-03-30 criteria provided, single submitter clinical testing SCN8A NM_014191.3 intron 23 c.4282-10C>G: This variant has not been reported in the literature but is present in 0.01% (8/68036) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-51789271-C-G?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:445379). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters 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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