Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002232905 | SCV000829367 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2022-09-25 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL5A2 protein function. ClinVar contains an entry for this variant (Variation ID: 577774). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. This variant is present in population databases (rs768663426, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1057 of the COL5A2 protein (p.Thr1057Ala). |
Gene |
RCV001759394 | SCV001987176 | uncertain significance | not provided | 2022-11-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome Diagnostics Laboratory, |
RCV002279493 | SCV002565826 | uncertain significance | Ehlers-Danlos syndrome | 2018-12-01 | criteria provided, single submitter | clinical testing |