Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760199 | SCV000890029 | uncertain significance | Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000798273 | SCV000937879 | uncertain significance | Brugada syndrome 5 | 2023-07-28 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 116 of the SCN1B protein (p.Ser116Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SCN1B-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 619998). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
3billion | RCV002250691 | SCV002521278 | uncertain significance | Developmental and epileptic encephalopathy, 52 | 2022-05-22 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline. |
Fulgent Genetics, |
RCV000760199 | SCV002816835 | uncertain significance | Generalized epilepsy with febrile seizures plus, type 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy, 52 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Center For Human Genetics And Laboratory Diagnostics, |
RCV002536577 | SCV003035455 | uncertain significance | Generalized epilepsy with febrile seizures plus, type 1 | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166015 | SCV003912120 | uncertain significance | Inborn genetic diseases | 2023-03-06 | criteria provided, single submitter | clinical testing | The c.347C>T (p.S116L) alteration is located in exon 3 (coding exon 3) of the SCN1B gene. This alteration results from a C to T substitution at nucleotide position 347, causing the serine (S) at amino acid position 116 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV003222123 | SCV003918738 | uncertain significance | not provided | 2023-04-04 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |