Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000702409 | SCV000831262 | uncertain significance | Progressive myoclonic epilepsy | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 75 of the SCARB2 protein (p.Ile75Phe). This variant is not present in population databases (gnomAD no frequency). 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: 579188). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV002536357 | SCV003656812 | uncertain significance | Inborn genetic diseases | 2022-11-30 | criteria provided, single submitter | clinical testing | The c.223A>T (p.I75F) alteration is located in exon 2 (coding exon 2) of the SCARB2 gene. This alteration results from a A to T substitution at nucleotide position 223, causing the isoleucine (I) at amino acid position 75 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |