Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000687921 | SCV000815514 | uncertain significance | Progressive myoclonic epilepsy | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 353 of the SCARB2 protein (p.Ile353Val). This variant is present in population databases (rs542349309, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with SCARB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 567752). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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. |
| Ambry Genetics | RCV002547118 | SCV003530854 | uncertain significance | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | The c.1057A>G (p.I353V) alteration is located in exon 8 (coding exon 8) of the SCARB2 gene. This alteration results from a A to G substitution at nucleotide position 1057, causing the isoleucine (I) at amino acid position 353 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |