Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857033 | SCV002275994 | uncertain significance | Brugada syndrome 5 | 2023-06-29 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 433138). This missense change has been observed in individual(s) with clinical features of SCN1B-related conditions (PMID: 29358611). This variant is present in population databases (rs138450474, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 158 of the SCN1B protein (p.Val158Leu). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5042G>C in the primary transcript. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252143 | SCV002523300 | uncertain significance | See cases | 2019-10-18 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM2, PM3 |
Ambry Genetics | RCV002341177 | SCV002638318 | uncertain significance | Cardiovascular phenotype | 2023-05-18 | criteria provided, single submitter | clinical testing | The p.V158L variant (also known as c.472G>C), located in coding exon 4 of the SCN1B gene, results from a G to C substitution at nucleotide position 472. The valine at codon 158 is replaced by leucine, an amino acid with highly similar properties. This alteration has been detected in an individual with rolandic or atypical rolandic epilepsy (Bobbili DR et al. Eur. J. Hum. Genet., 2018 02;26:258-264). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of Brugada syndrome; however, its contribution to the development of SCN1B-related developmental and epileptic encephalopathy and SCN1B-related epilepsy is uncertain. |
Ce |
RCV003456401 | SCV004183632 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SCN1B: PM5, PP3 |
Bioinformatics Core, |
RCV000656062 | SCV000588338 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |