ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)

dbSNP: rs1555228665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626917 SCV000747620 likely pathogenic Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizure (within the age range of 3 months to 6 years) 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000701379 SCV000830179 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-02-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN8A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 1412 of the SCN8A protein (p.Phe1412Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.
Baylor Genetics RCV001330491 SCV001522179 uncertain significance Developmental and epileptic encephalopathy, 13 2019-01-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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