Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488093 | SCV000575293 | uncertain significance | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000623629 | SCV000741581 | uncertain significance | Inborn genetic diseases | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002231119 | SCV000825824 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000697227 | SCV001190438 | uncertain significance | Ehlers-Danlos syndrome, classic type | 2019-10-02 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 5 p.Arg130His (c.389G>A): This variant has not been reported in the literature but is present in 0.01% (4/24956) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189963466-C-T). This variant is present in ClinVar (Variation ID:425252). 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. |
Gene |
RCV000488093 | SCV001831892 | uncertain significance | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 425252; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 23587214, 11006503, 22696272, 8168810) |
Ambry Genetics | RCV002356798 | SCV002620932 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-06 | criteria provided, single submitter | clinical testing | The p.R130H variant (also known as c.389G>A), located in coding exon 5 of the COL5A2 gene, results from a G to A substitution at nucleotide position 389. The arginine at codon 130 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Center for Genomics, |
RCV003224298 | SCV003919845 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2021-03-30 | criteria provided, single submitter | clinical testing | COL5A2 NM_000393.4 exon 5 p.Arg130His (c.389G>A): This variant has not been reported in the literature but is present in 0.01% (4/24956) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-189963466-C-T). This variant is present in ClinVar (Variation ID:425252). 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. |