ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.1846_1854GGCTACAGC[1] (p.616_618GYS[1]) (rs758276968)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474401 SCV000544806 uncertain significance Early infantile epileptic encephalopathy 2018-08-09 criteria provided, single submitter clinical testing This variant, c.1855_1863delGGCTACAGC, results in the deletion of 3 amino acids of the SCN8A protein (p.Gly619_Ser621del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758276968, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with SCN8A-related disease. ClinVar contains an entry for this variant (Variation ID: 406253). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000720631 SCV000851510 likely benign History of neurodevelopmental disorder 2018-06-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731064 SCV000858835 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000731064 SCV001148738 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing

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