Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171048 | SCV000223612 | likely benign | not specified | 2017-09-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000692873 | SCV000820720 | uncertain significance | Brugada syndrome 5 | 2023-09-24 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. ClinVar contains an entry for this variant (Variation ID: 190868). This missense change has been observed in individual(s) with SCN1B-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 8 of the SCN1B protein (p.Val8Ala). |
Ambry Genetics | RCV003165347 | SCV003902283 | uncertain significance | Cardiovascular phenotype | 2022-12-11 | criteria provided, single submitter | clinical testing | The p.V8A variant (also known as c.23T>C), located in coding exon 1 of the SCN1B gene, results from a T to C substitution at nucleotide position 23. The valine at codon 8 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |