ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln)

gnomAD frequency: 0.00006  dbSNP: rs369346315
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726306 SCV000242927 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27875746)
Eurofins Ntd Llc (ga) RCV000726306 SCV000343608 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000636407 SCV000757846 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317158 SCV000850676 uncertain significance Inborn genetic diseases 2017-05-25 criteria provided, single submitter clinical testing The p.R1960Q variant (also known as c.5879G>A), located in coding exon 26 of the SCN8A gene, results from a G to A substitution at nucleotide position 5879. The arginine at codon 1960 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197747 SCV001368526 benign Developmental and epileptic encephalopathy, 13 2019-03-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen RCV000726306 SCV001748363 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing SCN8A: PP2
Revvity Omics, Revvity RCV000726306 SCV003826953 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing

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