ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.472G>C (p.Val158Leu)

gnomAD frequency: 0.00002  dbSNP: rs138450474
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
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, Hospital Israelita Albert Einstein 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, the in silico prediction for this alteration is inconclusive. 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.
CeGaT Center for Human Genetics Tuebingen RCV003456401 SCV004183632 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing SCN1B: PM5, PP3
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656062 SCV000588338 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.