Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699221 | SCV000827922 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-06-25 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 576670). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 10 of the COL12A1 protein (p.Ala10Glu). |
Gene |
RCV001564120 | SCV001787229 | uncertain significance | not provided | 2020-12-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; No data available from ethnically-matched control populations to assess the frequency of this variant; In silico analysis supports that this variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 576670; Landrum et al., 2016) |
Centogene AG - |
RCV001809765 | SCV002059539 | uncertain significance | Bethlem myopathy 2 | 2021-06-02 | criteria provided, single submitter | clinical testing |