Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000087432 | SCV000492941 | likely pathogenic | Ehlers-Danlos syndrome, type 4 | 2014-12-04 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198513 | SCV001369473 | likely pathogenic | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |
Center for Genomics, |
RCV000087432 | SCV002496066 | likely pathogenic | Ehlers-Danlos syndrome, type 4 | 2022-01-31 | criteria provided, single submitter | clinical testing | COL3A1 NM_000090.3 exon 16 p.Gly351Val (c.1052G>T): This variant has been reported in the literature in 2 individuals with features suggestive of or consistent with vascular Ehlers-Danlos syndrome (Pepin 2014 PMID:24922459; Lumi 2021 PMID:34011391). This variant is absent from large control databases but is present in ClinVar (Variation ID:101195). Evolutionary conservation and computational prediction tools suggest that this variant impacts the protein. Of note, this variant alters a Glycine in the Gly-X-Y repeat sequence of COL3A1's triple-helical region; Glycine residues at these positions are known to be critical for proper protein structure and stability (Mizuno 2013 PMID:23645670). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic. |
Center for Genomics, |
RCV003224147 | SCV003919827 | likely pathogenic | Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 2022-02-04 | criteria provided, single submitter | clinical testing | This variant has been reported in the literature in 2 individuals with features suggestive of or consistent with vascular Ehlers-Danlos syndrome (Pepin 2014 PMID:24922459; Lumi 2021 PMID:34011391). This variant is absent from large control databases but is present in ClinVar (Variation ID:101195). Evolutionary conservation and computational prediction tools suggest that this variant impacts the protein. Of note, this variant alters a Glycine in the Gly-X-Y repeat sequence of COL3A1's triple-helical region; Glycine residues at these positions are known to be critical for proper protein structure and stability (Mizuno 2013 PMID:23645670). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic. |
Collagen Diagnostic Laboratory, |
RCV000087432 | SCV000120317 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing |