Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002039212 | SCV002107874 | uncertain significance | not provided | 2023-04-05 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1349711). This variant has not been reported in the literature in individuals affected with SCO1-related conditions. This variant is present in population databases (rs767557634, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 68 of the SCO1 protein (p.Ser68Asn). |
Fulgent Genetics, |
RCV002503363 | SCV002778804 | uncertain significance | Mitochondrial complex 4 deficiency, nuclear type 4 | 2021-11-05 | criteria provided, single submitter | clinical testing |