ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)

gnomAD frequency: 0.00001  dbSNP: rs775833241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001864533 SCV002143858 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-08-22 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1371411). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. This variant is present in population databases (rs775833241, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1046 of the SCN8A protein (p.Ala1046Thr).
Fulgent Genetics, Fulgent Genetics RCV002482580 SCV002777951 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2021-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551646 SCV003663809 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.3136G>A (p.A1046T) alteration is located in exon 17 (coding exon 16) of the SCN8A gene. This alteration results from a G to A substitution at nucleotide position 3136, causing the alanine (A) at amino acid position 1046 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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