Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807994 | SCV000948078 | uncertain significance | Brugada syndrome 5 | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 163 of the SCN1B protein (p.Arg163Trp). This variant is present in population databases (rs373443526, gnomAD 0.03%). 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: 652443). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Gene |
RCV001574966 | SCV001801872 | uncertain significance | not provided | 2020-10-30 | criteria provided, single submitter | clinical testing | Located in an alternate transcript of the gene; In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |