Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000794837 | SCV000934269 | uncertain significance | Progressive myoclonic epilepsy | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 172 of the SCARB2 protein (p.Thr172Ile). This variant is present in population databases (rs557392749, gnomAD 0.1%). 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: 641570). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 | RCV002334476 | SCV002641091 | uncertain significance | Inborn genetic diseases | 2019-08-01 | criteria provided, single submitter | clinical testing | The p.T172I variant (also known as c.515C>T), located in coding exon 4 of the SCARB2 gene, results from a C to T substitution at nucleotide position 515. The threonine at codon 172 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |