Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV001281056 | SCV001468480 | uncertain significance | Ehlers-Danlos syndrome, classic type | 2020-08-03 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 42 p.Ala929Val (c.2786C>T): This variant has not been reported in the literature but is present in 0.006% (2/30022) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189916191-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Labcorp Genetics |
RCV001880203 | SCV002210250 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 929 of the COL5A2 protein (p.Ala929Val). This variant is present in population databases (rs747843876, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL5A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 988851). 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 with a negative predictive value of 80%. 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. |
Center for Genomics, |
RCV003224538 | SCV003919841 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 42 p.Ala929Val (c.2786C>T): This variant has not been reported in the literature but is present in 0.006% (2/30022) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189916191-G-A). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Birmingham Platelet Group; University of Birmingham | RCV001270557 | SCV001450856 | uncertain significance | Abnormal bleeding; Thrombocytopenia | 2020-05-01 | no assertion criteria provided | research |