Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000728594 | SCV000618282 | uncertain significance | not provided | 2020-11-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000638322 | SCV000759816 | uncertain significance | Progressive myoclonic epilepsy | 2022-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 127 of the SCARB2 protein (p.Asp127Tyr). This variant is present in population databases (rs148022786, 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: 449847). 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. |
Eurofins Ntd Llc |
RCV000728594 | SCV000856186 | uncertain significance | not provided | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001336823 | SCV001530321 | uncertain significance | Action myoclonus-renal failure syndrome | 2018-03-14 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Mayo Clinic Laboratories, |
RCV000728594 | SCV001714115 | uncertain significance | not provided | 2020-01-14 | criteria provided, single submitter | clinical testing |